Relevant bibliographies by topics / LGMDR8

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Academic literature on the topic 'LGMDR8'

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Published: 1 April 2023

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Journal articles on the topic "LGMDR8"

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Alonso-Pérez, Jorge, Lidia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, et al. "New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy." Brain 143, no. 9 (September 1, 2020): 2696–708. http://dx.doi.org/10.1093/brain/awaa228.

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Abstract Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3–6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.
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Lasa-Elgarresta, Jaione, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, and Ainara Vallejo-Illarramendi. "Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations." International Journal of Molecular Sciences 20, no. 18 (September 13, 2019): 4548. http://dx.doi.org/10.3390/ijms20184548.

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Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb muscles that usually appears in children and young adults and results in loss of ambulation within 20 years after disease onset in most patients. The pathophysiological mechanisms involved in LGMDR1 remain mostly unknown, and to date, there is no effective treatment for this disease. Here, we review clinical and experimental evidence suggesting that dysregulation of Ca2+ homeostasis in the skeletal muscle is a significant underlying event in this muscular dystrophy. We also review and discuss specific clinical features of LGMDR1, CAPN3 functions, novel putative targets for therapeutic strategies, and current approaches aiming to treat LGMDR1. These novel approaches may be clinically relevant not only for LGMDR1 but also for other muscular dystrophies with secondary calpainopathy or with abnormal Ca2+ homeostasis, such as LGMD2B/LGMDR2 or sporadic inclusion body myositis.
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Tasca, Giorgio, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D’Amico, Fabiana Fattori, et al. "MRI in sarcoglycanopathies: a large international cohort study." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 1 (September 9, 2017): 72–77. http://dx.doi.org/10.1136/jnnp-2017-316736.

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ObjectivesTo characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.MethodsLower limb MRI scans of patients with LGMD2C–2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well.ResultsScans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones.ConclusionsMuscle involvement on MRI is consistent in patients with LGMD2C–F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.
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Khadilkar, Satish V., Bhagyadhan A. Patel, and Jamshed A. Lalkaka. "Making sense of the clinical spectrum of limb girdle muscular dystrophies." Practical Neurology 18, no. 3 (February 22, 2018): 201–10. http://dx.doi.org/10.1136/practneurol-2017-001799.

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The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis. The clinical approach to LGMDs uses the age at onset, genetic transmission and clinical patterns of muscular weakness. Helpful clinical features that help to differentiate the various subtypes include: predominant upper girdle weakness, disproportionate respiratory muscle involvement, distal weakness, hip adductor weakness, ‘biceps lump’ and ‘diamond on quadriceps’ sign, calf hypertrophy, contractures and cardiac involvement. Almost half of patients with LGMD have such clinical clues. Investigations such as serum creatine kinase, electrophysiology, muscle biopsy and genetic studies can complement the clinical examination. In this review, we discuss diagnostic clinical pointers and comment on the differential diagnosis and relevant investigations, using illustrative case studies.
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Hadj Salem, Ikhlass, Fatma Kamoun, Nacim Louhichi, Souad Rouis, Mariam Mziou, Nourhene Fendri-Kriaa, Fatma Makni-Ayadi, Chahnez Triki, and Faiza Fakhfakh. "Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies." Bioscience Reports 31, no. 2 (November 23, 2010): 125–35. http://dx.doi.org/10.1042/bsr20100026.

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LGMD (limb-girdle muscular dystrophy) and CMD (congenital muscular dystrophy) are two common forms of neuromuscular disorders which are distinguishable by their age of onset but with probably a similar underlying pathway. In the present study, we report immunohistochemical, Western-blot and genetic analyses in a large consanguineous Tunisian family with two branches, including seven patients sharing similar LGMD2 phenotype in one branch and one CMD patient in the other branch. Linkage analyses were compatible with the LGMD2A locus in one branch and the MDC1A (muscular dystrophy congenital type 1A) locus in the other branch. This result was supported by deficiency in merosin and calpain3 in the CMD patient and LGMD patients respectively. Mutation analysis revealed two distinct mutations: a c.8005delT frameshift deletion in exon 56 of the LAMA2 (laminin-α2) gene (MDC1A) was found in the CMD patient and a new homozygous mutation c.1536+1G>T in the donor splice site of intron 12 of the CAPN3 (calpain3) gene (LGMD2A) was found in the LGMD patients. RT–PCR (reverse transcription–PCR) performed on total RNA from a LGMD2A patient's muscle biopsy showed complete retention of intron 12 in CAPN3 cDNA, generating a PTC (premature termination codon) that potentially elicits degradation of the nonsense mRNA by NMD (nonsense-mediated mRNA decay). Our results indicate that mRNA analysis is necessary to clarify the primary effect of genomic mutations on splicing efficiency that alters mRNA processing and expression level.
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Cozma, Liviu, Maria Barsevschi, Cristina Mitu, Alexandra Bastian, and Bogdan Ovidiu Popescu. "SURPRISING GENOTYPE EXPRESSED AS A COMMON LIMB-GIRDLE MUSCULAR DYSTROPHY." Romanian Journal of Neurology 16, no. 2 (June 30, 2017): 71–73. http://dx.doi.org/10.37897/rjn.2017.2.6.

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Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture sugestive for LGMD with skeletal and cardiologic involvement. Histopathological examination shows a severe dystrophic picture and geneting testing revealed a unique never reported genotype association: a homozygous variant in the DES gene, associated with myofibrillar myopathy type 1 and LGMD2R, as well as a heterozygous variant in the CRYAB gene, associated with myofibrillar myopathy type 2, both of which could be responsible for the clinical picture.
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Marchuk, Margarita, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, and Yevheniya Sharhorodska. "Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis." Brain Sciences 11, no. 8 (July 31, 2021): 1020. http://dx.doi.org/10.3390/brainsci11081020.

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Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky’s reflex on the right, urinary incontinence during sneezing, prolonged walking and exercise from puberty. Additional methods made it possible to identify minor violations of conduction of the left ventricle, electromyography signs of primary muscular disease with predominant involvement of the proximal muscles of the lower extremities, elevation of serum creatine kinase (746.81 U/l), active foci of demyelination in the left frontal lobe, intrathecal synthesis of oligoclonal IgG bands (type 2) in cerebrospinal fluid, atrophy and fatty degeneration of all muscles of the shins, homozygous Variant of Uncertain Significance (VUS) c.1855C > T (p.Pro619Ser) in TRIM32 gene and heterozygous VUS c.2300C > G (p.Thr767Arg) in KIF5A, c.2840G > A (p.Arg947Lys) in MYH2, c.1502G > C (p.Gly501Ala) in POMT1 genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C > T (p.Pro619Ser) in the TRIM32 gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C > T (p.Pro619Ser) in TRIM32 gene that causes LGMDR8 in a patient with MS.
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Pathak, Pankaj, Mehar Chand Sharma, Pankaj Jha, Chitra Sarkar, Mohammed Faruq, Prerana Jha, Vaishali Suri, et al. "Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India." Journal of Neuromuscular Diseases 8, no. 1 (January 1, 2021): 125–36. http://dx.doi.org/10.3233/jnd-200547.

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Background: Limb girdle muscular dystrophy recessive type 1 (LGMDR1, Previously LGMD2A) is characterized by inactivating mutations in CAPN3. Despite the significant burden of muscular dystrophy in India, and particularly of LGMDR1, its genetic characterization and possible phenotypic manifestations are yet unidentified. Material and Methods: We performed bidirectional CAPN3 sequencing in 95 LGMDR1 patient samples characterized by calpain-3 protein analysis, and these findings were correlated with clinical, biochemical and histopathological features. Results: We identified 84 (88.4%) cases of LGMDR1 harboring 103 CAPN3 mutations (71 novel and 32 known). At least two mutant alleles were identified in 79 (94.2%) of patients. Notably, 76% exonic variations were enriched in nine CAPN3 exons and overall, 41 variations (40%) correspond to only eight exonic and intronic mutations. Patients with two nonsense/out of frame/splice-site mutations showed significant loss of calpain-3 protein as compared to those with two missense/inframe mutations (P = 0.04). We observed a slow progression of disease and less severity in our patients compared to European population. Rarely, presenting clinical features were atypical, and mimicked other muscle diseases like FSHMD, distal myopathy and metabolic myopathies. Conclusion: This is first systematic study to characterize the genetic framework of LGMDR1 in the Indian population. Preliminary calpain-3 immunoblot screening serves well to direct genetic testing. Our findings prioritized nine CAPN3 exons for LGMDR1 diagnosis in our population; therefore, a targeted-sequencing panel of nine exons could serve well for genetic diagnosis, carrier testing, counseling and clinical trial feasibility study in LGMDR1 patients in India.
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Willis, Erin, Steven A. Moore, Mary O. Cox, Vikki Stefans, Akilandeswari Aravindhan, Murat Gokden, and Aravindhan Veerapandiyan. "Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene." Child Neurology Open 9 (January 2022): 2329048X2210975. http://dx.doi.org/10.1177/2329048x221097518.

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Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein ( FKRP) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. Muscle histopathology, immunostaining, and western blotting were consistent with a dystroglycanopathy. Genetic testing identified maternal inheritance of the most common pathogenic FKRP variant c.826C>A (p.L276I). Also detected was a novel insertion and duplication on the paternally inherited FKRP allele: a single nucleotide insertion (c.948_949insC) and an eighteen nucleotide duplication (c.999_1017dup18) predicted to result in premature translation termination (p.E389*). Based on the clinical features and course of the patient, heterozygosity for the common pathogenic FKRP variant, and abnormal glycosylation of alpha-dystroglycan, we suggest that the novel FKRP insertion and duplication are pathogenic. This case expands the genetic heterogeneity of LGMDR9 and emphasize the importance of muscle biopsy for precise diagnosis.
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Angelini, C., L. Nardetto, C. Borsato, R. Padoan, M. Fanin, A. C. Nascimbeni, and E. Tasca. "The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)." Neurological Research 32, no. 1 (February 2010): 41–46. http://dx.doi.org/10.1179/174313209x380847.

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Dissertations / Theses on the topic "LGMDR8"

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Kirk, Calum Norman Robert. "Pathophysiology of anoctaminopathy (LGMD2L)." Thesis, University of Newcastle upon Tyne, 2017. http://hdl.handle.net/10443/3861.

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Ageing is a natural process, which is characterised by progressive decline in physiological functions and increased susceptibility to disease and death. Brain is particularly susceptible to structural and functional changes, which is more evident in disorders associated with ageing such as Alzheimer disease (AD). Copper is necessary for the protection against oxidative stress, energy production and neurotransmitter processing in the brain. However, higher copper levels can increase oxidative stress, resulting in neuronal damage. In order to avoid copper induced cytotoxicity, cells have to regulate copper levels through distribution into three intracellular pathways. By identifying changes in the copper pathways in the healthy and AD brain and by estimating the effects of copper chelation or supplementation in model cell line a better understanding of copper function in the brain will be obtained. In order to accomplish that copper, activity and protein levels of cytochrome c oxidase (COX) and superoxide dismutase (SOD) were measured in the healthy, AD brain and in HEK293 cell treated with copper chelators or supplemented with copper. Copper concentration was significantly decrease by more than 40% in healthy ageing brain and in the AD brain. Copper loss did not seem to affect the activity or protein level of the COX and SOD, since their levels were significantly increased in the ageing and AD brain. On the other hand, cells treated with copper chelators for three days faced a more than 75% decrease in intracellular copper concentration, which led to a more than 85% inhibition of the COX and SOD activity. Copper levels should be regulated properly in order to meet body’s metabolic demands and avoid cytotoxicity. Brain seems to have a mechanism where its energy demands have to be fulfilled even under low copper concentrations. Whereas, the prolonged and severe copper loss can dramatically affect the energy production and antioxidant defence systems which could be fatal to the cells.
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Britton, Stephen Andrew. "Characterisation of expressed sequences from LGMD2B region of chromosome 2p13." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311106.

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Richard, Isabelle. "Etiologie moleculaire de la dystrophie musculaire des ceintures type 2a (lgmd2a)." Paris 7, 1996. http://www.theses.fr/1996PA077273.

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Les dystrophies musculaires des ceintures (lgmd ou limb girdle muscular dystrophy) sont un groupe de maladies genetiques cliniquement heterogenes et caracterisees par une atrophie et une faiblesse progressive des muscles des ceintures. La premiere localisation d'une forme recessive avait ete determinee en 15q15. 1-q21. 1 grace a l'etude d'un groupe de familles reunionnaises. Cette these relate l'identification du gene correspondant, realisee par clonage positionnel. Apres construction de cartes physiques, restriction de l'intervalle candidat par analyse genetique et recherche de genes presents dans la region, l'identification de mutations chez des patients lgmd2a a permis de demontrer l'implication du gene codant pour une protease intracellulaire, la calpaine 3 specifique du muscle squelettique comme etant le site genetique responsable de cette forme de dystrophie des ceintures. L'analyse systematique de ce gene a conduit a l'identification de 50 mutations differentes dans des familles de toutes origines, demontrant la grande variete des defauts moleculaires. Afin de pouvoir entreprendre des etudes chez l'animal, nous avons ensuite caracterise la sequence de l'adnc de souris et d'une partie de l'organisation genomique du gene correspondant. Ces informations ont servi a la construction d'un modele murin de la maladie par recombinaison homologue. Ces travaux ont demontre, par l'implication de canp3 dans lgmd2a, l'existence d'un nouveau mecanisme conduisant a un processus dystrophique par opposition a des defauts dans des proteines structurales de la membrane musculaire presents dans les autres myopathies
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Bawa, Simranjot. "Exploring the molecular mechanisms of Drosophila dTRIM32 implicated in pathogenesis of Limb-Girdle Muscular Dystrophy 2H." Thesis, Kansas State University, 2017. http://hdl.handle.net/2097/38243.

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Master of Science
Biochemistry and Molecular Biophysics Interdepartmental Program
Erika Rae Geisbrecht
The E3 ubiquitin ligase TRIM32 is a member of tripartite motif (TRIM) family of proteins involved in various processes including differentiation, cell growth, muscle regeneration and cancer. TRIM32 is conserved between vertebrates (humans, mouse) and invertebrates (Drosophila). The N-terminus of this protein is characterized by a RING domain, B-box domain, and Coiled-Coil region, while the C-terminus contains six NHL repeats. In humans, mutations that cluster in the NHL domains of TRIM32 result in the muscle disorders Limb-Girdle Muscular Dystrophy type 2H (LGMD2H) and Sarcotubular Myopathy (STM). Mutations in the B-box region cause Bardet-Biedl Syndrome (BBS), a clinically separate disorder that affects multiple parts of the body. A comprehensive genetic analysis in vertebrate models is complicated by the ubiquitous expression of TRIM32 and neurogenic defects in TRIM32-/- mutant mice that are independent of the muscle pathology associated with LGMD2H. The model organism Drosophila melanogaster possesses a TRIM32 [dTRIM32/Thin (Tn)/Abba] homolog highly expressed in muscle tissue. We previously showed that dTRIM32 is localized to Z-disk of the sarcomere and is required for myofibril stability. Muscles form correctly in Drosophila tn mutants, but exhibit a degenerative muscle phenotype once contraction ensues. Mutant or RNAi knockdown larvae are also defective in locomotion, which mimics clinical features associated with loss of TRIM32 in LGMD2H patients. It is predicted that mutations in the NHL domain either affect protein structure or are involved in protein-protein interactions. However, the molecular mechanism by which these mutations affect the interaction properties of dTRIM32 is not understood. Biochemical pulldown assays using the bait fusion protein GST-dTRIM32-NHL identified numerous dTRIM32 binding proteins in larval muscle tissue. Many key glycolytic enzymes were present in the dTRIM32 pulldowns and not in control experiments. Glycolytic genes are expressed in the developing Drosophila musculature and are required for myoblast fusion. Strikingly, many glycolytic proteins are also found at the Z-disk, consistent with dTRIM32 localization. Our biochemical and genetic studies provide evidence that there is direct interaction between dTRIM32 and glycolytic proteins (Aldolase and PGLYM). dTRIM32 also regulates glycolytic enzyme levels and protein localization at their sites of action. These data together suggest a role for dTRIM32 in coordinating glycolytic enzyme function, possibly for localized ATP production or to maintain muscle mass via glycolytic intermediates.
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Rathgeber, Matthew F. "Galectin-1 Improves Sarcolemma Repair and Decreases the Inflammatory Response in LGMD2B Models." BYU ScholarsArchive, 2020. https://scholarsarchive.byu.edu/etd/8723.

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Limb-girdle muscular dystrophy type 2B (LGMD2B) is caused by mutations in the dysferlin gene, resulting in non-functional dysferlin, a key protein found in muscle membrane. Treatment options available for patients are chiefly palliative in nature and focus on maintaining ambulation. Our hypothesis is that galectin-1 (Gal-1), a soluble carbohydrate binding protein, increases membrane repair capacity, myogenic potential, M2 macrophage polarization and decreases NF-κB inflammation in dysferlin-deficient models. To test this hypothesis, we used recombinant human galectin-1 (rHsGal-1) to treat dysferlin-deficient models. We show that rHsGal-1 treatments of 48 h-72 h promotes myogenic maturation as indicated through improvements in size, myotube alignment, and myoblast migration in dysferlin-deficient myotubes. Furthermore, rHsGal-1 showed an increased membrane repair capacity of dysferlin-deficient myotubes. Improvements in membrane repair after only a 10 min rHsGal-1treatment suggests mechanical stabilization of the membrane due to interaction with glycosylated membrane bound, ECM or yet to be identified ligands through the CDR domain of Gal-1. rHsGal-l significantly reduces canonical NF-κB inflammation through TAK 1, P65, P50. Lastly we find 2.7 mg/kg in vivo rHsGal-1 treatment in BLA/J mice supports an M2 cyto-regenerative macrophage populations. Together our novel results reveal Gal-1 remediates disease pathologies in LGMD2B through changes in integral myogenic protein expression, mechanical membrane stabilization, immune modulation, and reducing canonical NF-κB inflammation.
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Taveau, Mathieu. "Caractérisation de la fonction et du mécanisme d'activation de la calpaïne 3, une protéase musculaire déficiente dans la dystrophie des ceintures de type 2A." Paris 6, 2003. http://www.theses.fr/2003PA066315.

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FOUGEROUSSE, FRANCOISE. "Cartographie d'une region genetique impliquee dans la dystrophie musculaire des ceintures (lgmd2)." Paris 7, 1994. http://www.theses.fr/1994PA077140.

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La dystrophie musculaire des ceintures est une myopathie hereditaire transmise sur un mode autosomal et presentant une heterogeneite clinique. Il existe deux formes: dominante et recessive. Un gene responsable de la forme recessive, lgmd2, a ete localise sur le bras long du chromosome 15 en 1991. Le travail presente ici concerne la cartographie de la region du chromosome 15 contenant lgmd2. Compte tenu de l'absence de donnees cytogenetiques, biochimiques ou autres pour cette myopathie, l'approche gene candidat n'a pu etre appliquee et l'identification du gene a ete envisagee selon la demarche de clonage positionnel qui fait appel a des techniques de cartographies genetique et physique. La cartographie genetique a permis de demontrer l'heterogeneite non allelique de ce phenotype clinique. Par ailleurs, l'intervalle contenant lgmd2 a ete precise et evalue a 7 cm. Parallelement, en vue du clonage du gene, la construction de la carte physique de la region a ete entreprise a partir des marqueurs l'encadrant. Cette region etant pauvre en stss, trois sortes de stss ont ete developpes pour cribler la banque de yacs du ceph: (i) ceux derives de genes deja sequences, (ii) des marqueurs microsatellites localises apres genotypage sur les familles de malades a proximite de la region lgmd2, (iii) des sequences des extremites de yacs ou des segments de la pcr inter-alu. Pres de 150 yacs ont ete identifies et une partie d'entre eux caracterises pour leur taille et leur chimerisme. Differentes approches ont ete pratiquees jusqu'a l'etablissement d'un continuum ininterrompu de yacs, de 15q15. 1 a 15q21. 1, soit 10-12 mb. La construction de la carte physique de la region a permis le developpement cible de nouveaux marqueurs. Cette strategie sera poursuivie jusqu'a restriction suffisante de l'intervalle par des approches genetiques avant de debuter une recherche systematique des transcrits
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Monjaret, François. "Evaluation de trois approches de thérapie génique pour le traitement des dysferlinopathies : miniprotéine, compensation et trans-épissage." Thesis, Evry-Val d'Essonne, 2012. http://www.theses.fr/2012EVRY0035/document.

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Les dysferlinopathies sont des maladies musculaires dues à une déficience en protéine dysferline, codée par le gène DYSF. Dans ce travail de thèse, trois approches thérapeutiques ont été évaluées pour ces pathologies, sur des modèles cellulaires et murins. Un variant transcriptionnel court de la dysferline a été vectorisé dans un AAV8r et injecté dans le modèle murin Bla/J, déficient en dysferline. L’analyse des muscles des animaux traités montre une augmentation de la résistance des fibres musculaires au stress mécanique, mais n’apporte pas de correction histologique. Cette étude souligne également la toxicité de cette miniprotéine. L’anoctamine 5, impliquée dans des pathologies et des activités similaires à la dysferline, a été testée en tant que protéine compensatrice. L’anoctamine 5 surexprimée dans le modèle Bla/J ne permet pas la restauration d’un phénotype normal. La compensation de DYSF par ANO5 n’est donc pas une voie thérapeutique à exploiter pour les dysferlinopathies. Enfin, une thérapie génique par chirurgie de l’ARN dysferline a été évaluée en utilisant le trans-épissage médié par le splicéosome (SMaRT). La preuve de principe de la reprogrammation d’un minigène dysferline a été faite (ARN et protéine trans-épissée obtenus in vitro). L’efficacité du SMaRT dans un contexte endogène s’est en revanche révélée faible, et n’a pas permis la restauration d’une protéine dysferline fonctionnelle dans des myoblastes humains. De plus, l’observation de l’expression de protéines directement à partir du RTM (RNA-trans-splicing molecule) a fait apparaître des limites à l’utilisation du SMaRT pour la thérapie génique, et en particulier pour les dysferlinopathies
Dysferlinopathies are muscular diseases due to mutations in DYSF gene, inducing dysferlin protein deficiency. In this thesis, three therapeutic approaches have been investigated for these pathologies, on cell or mice models. A short transcriptional dysferlin variant has been injected into Bla/J dysferlin deficient mouse model, using AAV8r vector. Muscle fibers of treated animals displayed an increased resistance to mechanical stress without therapeutic benefit. These experiments also pointed out the toxicity of this strategy. A protein compensation approach has been tested using anoctamin 5, known to be involved in pathologies and activities similar to dysferlin’s ones. AAVr mediated Anoctamin 5 overexpression in Bla/J model does not rescue their muscle phenotype. Overexpression of ANO5 does not seem to be a valuable therapeutic strategy for dysferlin deficiency. Dysferlin RNA surgery was evaluated as a possible genetic therapy using Spliceosome-Mediated RNA Trans-splicing (SMaRT). On a Minigene target, SMaRT is able to induce RNA reprogramming by trans-splicing, and produce the corresponding protein. But efficiency is by far decreased in endogenous context and not good enough to restore functional dysferlin in human myoblasts. Moreover, we described proteins resulting from RNA-trans-splicing molecule (RTM) self-expression, limiting the value of SMaRT as therapeutic strategy, especially for dysferlinopathies
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Broux, Odile. "Localisation, identification et etude d'un gene responsable d'une forme autosomique recessive de dystrophie musculaire de ceintures (lgmd2e)." Littoral, 1997. http://www.theses.fr/1997DUNK0008.

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Les dystrophies musculaires des ceintures representent un groupe heterogene de myopathies hereditaires transmises selon un mode autosomique dominant (lgmd1) ou recessif (lgmd2). L'analyse de la forme recessive lgmd2a a conduit a la demonstration d'une heterogeneite genetique au sein de la communaute amish de l'etat d'indiana aux etats-unis, suggerant l'existence d'un nouveau locus, appele lgmd2e, implique dans l'etiologie des formes recessives de dystrophie des ceintures. Une demarche de clonage positionnel a ete adoptee en vue de l'identification du gene, conduisant a la localisation primaire du locus morbide dans la region pericentromerique du chromosome 4. L'analyse genetique a permis la definition d'un intervalle contenant le locus lgmd2e, estime a 3 cm, sur lequel a ete entreprise la construction d'une carte physique sous forme d'un continuum de clones de yacs. Parallelement a cette etude, le gene de la -sarcoglycane, une glycoproteine de 43 kda du complexe associe a la dystrophine, a ete clone et caracterise. Ce gene, localise en 4q12, representait un excellent candidat pour cette myopathie. Des travaux communs ont permis d'identifier une mutation segregeant a l'etat homozygote dans le gene de la -sarcoglycane chez tous les patients amish etudies et de reveler une reduction concomitante de la proteine au niveau du sarcolemme, confirmant son implication dans la dystrophie des ceintures de forme lgmd2e. La determination de la sequence complete du gene de la -sarcoglycane a ensuite ete effectuee par sequencage aleatoire d'un cosmide. L'assemblage des sequences, effectue par le programme xbap du package staden, a conduit a l'etablissement d'un continuum unique de 36159 pb. L'organisation genomique du gene de la -sarcoglycane a ete deduite de la comparaison de cette sequence consensus avec les sequences d'adnc publiees. Six exons ont ete mis en evidence, representant une sequence codante de 954 paires de bases.
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Allamand, Valérie. "Cartographie genetique fine de la region impliquee dans une forme autosomique recessive de dystrophie musculaire des ceintures (lgmd2a)." Paris 7, 1995. http://www.theses.fr/1995PA077002.

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Les dystrophies musculaires des ceintures sont un groupe heterogene de myopathies autosomiques presentant une definition nosologique floue, un diagnostic incertain, une heterogeneite clinique et genetique. Afin d'identifier un locus responsable d'une forme recessive, lgmd2a, une strategie de clonage positionnel a ete appliquee. Consecutivement a l'assignation du locus lgmd2a dans la region 15q15. 1 - q21. 1, la construction d'un continuum ininterrompu de clones de yacs chevauchants couvrant cet intervalle de 10 a 12 mb a ete entreprise, en parallele avec l'etablissement d'une cartographie genetique fine de cette region de 7 cm. Les clones de yacs de la carte physique ont ete utilises pour generer de facon ciblee de nouveaux marqueurs polymorphes de type microsatellite. L'analyse genetique de lgmd2a a aboutit a deux resultats inattendus: (1) la demonstration d'une heterogeneite genetique au sein d'une communaute amish de l'etat d'indiana, impliquant l'existence d'un autre locus responsable d'une forme recessive de dystrophie musculaire des ceintures ; (2) l'observation d'une heterogeneite allelique dans des familles originaires de l'ile de la reunion, en contradiction avec l'hypothese d'un effet fondateur unique sur laquelle l'etude genetique etait basee. L'identification de nouveaux evenements de recombinaison dans les familles de malades a permis de definir une nouvelle region de 1 cm contenant le locus de la maladie, correspondant approximativement a 3 - 4 mb. Par la suite, des etudes de desequilibre de liaison entre les marqueurs polymorphes de la region et le locus de la maladie ont permis de definir une region de 1. 6 mb consideree comme localisation preferentielle du gene lgmd2a
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Book chapters on the topic "LGMDR8"

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 1A." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6089.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 1B." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6091.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 1C." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6092.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2A." In Encyclopedia of Molecular Mechanisms of Disease, 1167. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6094.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2B." In Encyclopedia of Molecular Mechanisms of Disease, 1167–68. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6095.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2H." In Encyclopedia of Molecular Mechanisms of Disease, 1168. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6097.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, et al. "LGMD 2I." In Encyclopedia of Molecular Mechanisms of Disease, 1168. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6100.

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8

Della Marina, A., U. Schara, and B. Schrank. "Kongenitale Muskeldystrophie Typ 1 C (MDC 1C) und Gliedergürtel-Muskeldystrophie 21 (LGMD2I)." In Klinik und Transition neuromuskulärer Erkrankungen, 171–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-662-44239-5_25.

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9

Zhang, Yicheng, Jiannan Zhao, Mu Hua, Hao Luan, Mei Liu, Fang Lei, Heriberto Cuayahuitl, and Shigang Yue. "O-LGMD: An Opponent Colour LGMD-Based Model for Collision Detection with Thermal Images at Night." In Lecture Notes in Computer Science, 249–60. Cham: Springer Nature Switzerland, 2022. http://dx.doi.org/10.1007/978-3-031-15934-3_21.

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Morie, Maho Wielfrid, Iza Marfisi-Schottman, and Bi Tra Goore. "LGMD: Optimal Lightweight Metadata Model for Indexing Learning Games." In Communications in Computer and Information Science, 3–16. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-45183-7_1.

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Conference papers on the topic "LGMDR8"

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Farias, Igor Braga, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Roberta Ismael Lacerda Machado, Carolina Maria Marin, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "Clinical and genetic profile of Brazilian patients with dysferlinopathies – A retrospective study." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.054.

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Introduction: Dysferlinopathies are a group of conditions that are caused by mutations in the dysferlin gene. Objectives: To characterize the clinical phenotypes and genotypic spectrum of dysferlinopathies patients and to estimate the progression of functional and motor decline. Design and setting: Retrospective analysis of the medical records of patients followed up at our institution between 1995 and 2020. Methods: Patients were selected based on the following inclusion criteria:(i) Identification of a mutation defined as pathogenic in homozygosis or compound heterozygosis in the Dysf gene;or (ii)compatible clinical manifestations and decreased expression of dysferlin in immunohistochemistry on muscle biopsy. Classification of the phenotype was based on the first symptoms. Functionality was defined by the Gardner–Medwin & Walton(GMW) scale modified for dysferlinopathy. Results: 23 patients were included in the study. 16 were classified as limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2), 4 as Miyoshi muscular dystrophy, 2 as proximo-distal onset and 1 as asymptomatic hyperCKemia. Thighs adduction was the most affected movement in the first evaluation (mean strength=3). Plantar flexion was the movement with the greatest decline in strength(mean=-0.10 points on MRC/year;pT, Arg2042Cys and c.2643+1G>A, p.?(splicing), found 3 times each. There was no statistical difference in muscle strength in the first evaluation, motor and functional decline between the phenotypes. Conclusion: While LGMDR2 was the most common phenotype at onset, with the exception of asymptomatic hyperCKemia, there were not a clear difference in the pattern of progression between them.
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Fu, Qinbing, and Shigang Yue. "Modelling LGMD2 visual neuron system." In 2015 IEEE 25th International Workshop on Machine Learning for Signal Processing (MLSP). IEEE, 2015. http://dx.doi.org/10.1109/mlsp.2015.7324313.

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"LGMD based Neural Network for Automatic Collision Detection." In 9th International Conference on Informatics in Control, Automation and Robotics. SciTePress - Science and and Technology Publications, 2012. http://dx.doi.org/10.5220/0004044201320140.

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Fu, Qinbing, Cheng Hu, Tian Liu, and Shigang Yue. "Collision selective LGMDs neuron models research benefits from a vision-based autonomous micro robot." In 2017 IEEE/RSJ International Conference on Intelligent Robots and Systems (IROS). IEEE, 2017. http://dx.doi.org/10.1109/iros.2017.8206254.

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Shigang Yue and F. Claire Rind. "Near range path navigation using LGMD visual neural networks." In 2009 2nd IEEE International Conference on Computer Science and Information Technology. IEEE, 2009. http://dx.doi.org/10.1109/iccsit.2009.5234439.

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Guopeng Zhang, Chun Zhang, and Shigang Yue. "LGMD and DSNs neural networks integration for collision predication." In 2016 International Joint Conference on Neural Networks (IJCNN). IEEE, 2016. http://dx.doi.org/10.1109/ijcnn.2016.7727330.

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Rodino-Klapac, L. R., E. R. Pozsgai, S. Lewis, D. A. Griffin, A. S. Meadows, K. J. Lehman, K. Church, et al. "Safety, β-Sarcoglycan Expression, and Functional Outcomes from Systemic Gene Transfer of rAAVrh74.MHCK7.hSGCB in LGMD2E/R4." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739648.

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Hu, Bin, Zhuhong Zhang, and Lun Li. "LGMD-BASED VISUAL NEURAL NETWORK FOR DETECTING CROWD ESCAPE BEHAVIOR." In 2018 5th IEEE International Conference on Cloud Computing and Intelligence Systems (CCIS). IEEE, 2018. http://dx.doi.org/10.1109/ccis.2018.8691354.

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Silva, A., and C. Santos. "Computational model of the LGMD neuron for automatic collision detection." In 2013 IEEE 3rd Portuguese Meeting in Bioengineering (ENBENG). IEEE, 2013. http://dx.doi.org/10.1109/enbeng.2013.6518420.

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Silva, Ana, and Cristina P. Santos. "Modeling disinhibition within a layered structure of the LGMD neuron." In 2013 International Joint Conference on Neural Networks (IJCNN 2013 - Dallas). IEEE, 2013. http://dx.doi.org/10.1109/ijcnn.2013.6707010.

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