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Journal articles on the topic 'Collagen VI related dystrophy'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Fraser, Kristin L., Scott Wong, A. Reghan Foley, et al. "Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management." ERJ Open Research 3, no. 2 (2017): 00049–2017. http://dx.doi.org/10.1183/23120541.00049-2017.

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Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in theCOL6A1,COL6A2orCOL6A3genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness. To date, intrinsic parenchymal lung diseas

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Castroflorio, Enrico, Ana Joaquina Pérez Berná, Arístides López-Márquez, et al. "The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy." International Journal of Molecular Sciences 23, no. 14 (2022): 7651. http://dx.doi.org/10.3390/ijms23147651.

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Collagen VI-related disorders (COL6-RD) represent a severe form of congenital disease for which there is no treatment. Dominant-negative pathogenic variants in the genes encoding α chains of collagen VI are the main cause of COL6-RD. Here we report that patient-derived fibroblasts carrying a common single nucleotide variant mutation are unable to build the extracellular collagen VI network. This correlates with the intracellular accumulation of endosomes and lysosomes triggered by the increased phosphorylation of the collagen VI receptor CMG2. Notably, using a CRISPR-Cas9 gene-editing tool to

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3

Antoniel, Manuela, Francesco Traina, Luciano Merlini, et al. "Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations." Cells 9, no. 2 (2020): 409. http://dx.doi.org/10.3390/cells9020409.

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Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis myopathy. In addition to congenital muscle weakness, patients affected by collagen VI-related myopathies show axial and proximal joint contractures, and distal joint hypermobility, which suggest the involvement of tendon function. To gain further insight into the role of collagen VI in human tendon structure and function, we performed ultrastructural, biochemical, and RT-PCR analysis on tendon biopsies and on cell cultures derive

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Pan, Te-Cheng, Rui-Zhu Zhang, Dessislava Markova, et al. "COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy." Journal of Biological Chemistry 288, no. 20 (2013): 14320–31. http://dx.doi.org/10.1074/jbc.m112.433078.

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Collagen VI is a ubiquitously expressed extracellular microfibrillar protein. Its most common molecular form is composed of the α1(VI), α2(VI), and α3(VI) collagen α chains encoded by the COL6A1, COL6A2, and COL6A3 genes, respectively. Mutations in any of the three collagen VI genes cause congenital muscular dystrophy types Bethlem and Ullrich as well as intermediate phenotypes characterized by muscle weakness and connective tissue abnormalities. The α3(VI) collagen α chain has much larger N- and C-globular domains than the other two chains. Its most C-terminal domain can be cleaved off after

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Padmanabha, Hansashree, Gautham Arunachal, Pratik Kishore, et al. "Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy." Neurology India 71, no. 6 (2023): 1257–59. http://dx.doi.org/10.4103/0028-3886.391402.

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Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to h

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6

Guadagnin, Eleonora, Payam Mohassel, Kory R. Johnson, et al. "Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies." Annals of Clinical and Translational Neurology 8, no. 11 (2021): 2184–98. http://dx.doi.org/10.1002/acn3.51450.

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7

曹, 一凡. "The Treatment Progress of Collagen VI Related Congenital Muscular Dystrophy." Advances in Clinical Medicine 11, no. 12 (2021): 6013–17. http://dx.doi.org/10.12677/acm.2021.1112891.

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8

Batra, Abhinandan, Donovan J. Lott, Rebecca Willcocks, et al. "Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study." Journal of Neuromuscular Diseases 7, no. 4 (2020): 407–17. http://dx.doi.org/10.3233/jnd-190457.

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Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD) cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in the COL6 genes (COL6A1, COL6A2 and COL6A3) encoding the extracellular matrix protein collagen VI, and DMD is caused by mutations in the DMD gene encoding the cytoplasmic protein dystrophin. Both COL6-RDs and DMD are characterized by infiltration of the muscles by fatty and fibrotic tissue. This study examined the effect of disease pathology on skeletal muscles in lower extremity muscles of COL6-RDs using timed functional tests, s

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9

Di Martino, Alberto, Matilde Cescon, Claudio D’Agostino, et al. "Collagen VI in the Musculoskeletal System." International Journal of Molecular Sciences 24, no. 6 (2023): 5095. http://dx.doi.org/10.3390/ijms24065095.

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Collagen VI exerts several functions in the tissues in which it is expressed, including mechanical roles, cytoprotective functions with the inhibition of apoptosis and oxidative damage, and the promotion of tumor growth and progression by the regulation of cell differentiation and autophagic mechanisms. Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM), which show a variable combination of mu

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10

Merlini, Luciano, Patrizia Sabatelli, Francesca Gualandi, Edoardo Redivo, Alberto Di Martino, and Cesare Faldini. "New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients." International Journal of Molecular Sciences 24, no. 15 (2023): 12474. http://dx.doi.org/10.3390/ijms241512474.

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Pathogenetic mechanism recognition and proof-of-concept clinical trials were performed in our patients affected by collagen VI-related myopathies. This study, which included 69 patients, aimed to identify innovative clinical data to better design future trials. Among the patients, 33 had Bethlem myopathy (BM), 24 had Ullrich congenital muscular dystrophy (UCMD), 7 had an intermediate phenotype (INTM), and five had myosclerosis myopathy (MM). We obtained data on muscle strength, the degree of contracture, immunofluorescence, and genetics. In our BM group, only one third had a knee extension str

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11

Meilleur, Katherine G., Melody M. Linton, Joseph Fontana та ін. "Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy". Pediatric Pulmonology 52, № 4 (2017): 524–32. http://dx.doi.org/10.1002/ppul.23622.

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12

Butterfield, Russell J., Diane M. Dunn, Ying Hu, Kory Johnson, Carsten G. Bönnemann, and Robert B. Weiss. "Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy." PLOS ONE 12, no. 12 (2017): e0189664. http://dx.doi.org/10.1371/journal.pone.0189664.

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13

Mohassel, P., J. Rooney, M. Nalls та ін. "O.35Disruption of bioavailability of TGFβ in collagen VI-related muscular dystrophy". Neuromuscular Disorders 29 (жовтень 2019): S126. http://dx.doi.org/10.1016/j.nmd.2019.06.318.

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14

Nelson, Isabelle, Tanya Stojkovic, Valérie Allamand та ін. "Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases". Journal of Neuromuscular Diseases 2, № 3 (2015): 229–40. http://dx.doi.org/10.3233/jnd-150093.

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15

Bendixen, Roxanna M., Jocelyn Butrum, Mina S. Jain, et al. "Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy." Neuromuscular Disorders 27, no. 3 (2017): 278–85. http://dx.doi.org/10.1016/j.nmd.2016.11.017.

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16

Yamamoto, Lydia U., Fernando J. Velloso, Bruno L. Lima, et al. "Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene." Journal of Histochemistry & Cytochemistry 56, no. 11 (2008): 995–1001. http://dx.doi.org/10.1369/jhc.2008.951772.

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Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen VI, α-DG, and α2-laminin, in muscle biopsies from 13 unrelated LGMD2I patients with 10 different FKRP mutations. In all, a typical dystrophic pattern was observed. In eight patients, a

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Cenni, Vittoria, Patrizia Sabatelli, Alberto Di Martino, et al. "Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy." Cells 13, no. 5 (2024): 378. http://dx.doi.org/10.3390/cells13050378.

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The pericellular matrix (PCM) is a specialized extracellular matrix that surrounds cells. Interactions with the PCM enable the cells to sense and respond to mechanical signals, triggering a proper adaptive response. Collagen VI is a component of muscle and tendon PCM. Mutations in collagen VI genes cause a distinctive group of inherited skeletal muscle diseases, and Ullrich congenital muscular dystrophy (UCMD) is the most severe form. In addition to muscle weakness, UCMD patients show structural and functional changes of the tendon PCM. In this study, we investigated whether PCM alterations du

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18

Starace, Michela, Francesca Pampaloni, Francesca Bruni, et al. "Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype." International Journal of Molecular Sciences 24, no. 7 (2023): 6678. http://dx.doi.org/10.3390/ijms24076678.

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Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and tr

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19

BERTINI, ENRICO, and GUGLIELMINA PEPE. "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy." European Journal of Paediatric Neurology 6, no. 4 (2002): 193–98. http://dx.doi.org/10.1053/ejpn.2002.0593.

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20

Oros, Mihaela, Lucica Baranga, Adelina Glangher, et al. "A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report." Journal of Personalized Medicine 13, no. 11 (2023): 1577. http://dx.doi.org/10.3390/jpm13111577.

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Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened, requiring mechanical ventilation, particularly during sleep. Individuals with collag

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21

Villar-Quiles, Rocío N., Sandra Donkervoort, Alix de Becdelièvre, et al. "Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies." Journal of Neuromuscular Diseases 8, no. 4 (2021): 633–45. http://dx.doi.org/10.3233/jnd-200577.

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Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital muscular dystrophy) to milder forms maintaining independent ambulation (Bethlem myopathy). Diagnosis is based on the combination of clinical presentation, muscle MRI, muscle biopsy, analysis of collagen VI secretion, and COL6A1-A2-A3 genetic analysis, the interpretation of which can be challenging. Objective: To refine the phenotypical spectrum

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22

Thao, Dinh Huong, Nguyen Phuong Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto, and Nguyen Thuy Duong. "Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy." Vietnam Journal of Biotechnology 19, no. 2 (2021): 213–21. http://dx.doi.org/10.15625/1811-4989/16157.

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Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency. Affected individuals have trouble standing up and walking independently. Mutations in 3 genes (COL6A1, COL6A2, and COL6A3) are associated with decreasing collagen-VI production and disrupting the microfibrillar network between skele

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23

Harris, Elizabeth, Ana Topf, Rita Barresi, et al. "Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy." Orphanet Journal of Rare Diseases 12, no. 1 (2017): 151. https://doi.org/10.1186/s13023-017-0699-9.

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<strong>Background: </strong>Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, limiting the diagnostic rate using phenotype driven genetic testing. Next generation sequencing provides an opportunity to obtain molecular diagnoses for undiagnosed patients, as well as identifying novel genetic causes of muscle diseases. We performed whole exome sequencing (WES) on 1

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Reed, Umbertina Conti. "Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects." Arquivos de Neuro-Psiquiatria 67, no. 1 (2009): 144–68. http://dx.doi.org/10.1590/s0004-282x2009000100038.

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The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. We initi

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Reed, Umbertina Conti. "Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives." Arquivos de Neuro-Psiquiatria 67, no. 2a (2009): 343–62. http://dx.doi.org/10.1590/s0004-282x2009000200035.

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The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the l

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Deconinck, N., E. Dion, R. Ben Yaou, et al. "Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern." Neuromuscular Disorders 20, no. 8 (2010): 517–23. http://dx.doi.org/10.1016/j.nmd.2010.04.009.

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27

Mohassel, P., H. Hearn, Y. Zou, J. Rooney та C. Bönnemann. "P425 Inhibition of TGFβ signaling pathway as a therapeutic approach in collagen VI-related muscular dystrophy". Neuromuscular Disorders 33 (жовтень 2023): S158—S159. http://dx.doi.org/10.1016/j.nmd.2023.07.366.

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28

Zanotti, Simona, Francesca Magri, Sabrina Salani, et al. "Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes." International Journal of Molecular Sciences 24, no. 6 (2023): 5551. http://dx.doi.org/10.3390/ijms24065551.

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Collagen VI is a heterotrimeric protein expressed in several tissues and involved in the maintenance of cell integrity. It localizes at the cell surface, creating a microfilamentous network that links the cytoskeleton to the extracellular matrix. The heterotrimer consists of three chains encoded by COL6A1, COL6A2 and COL6A3 genes. Recessive and dominant molecular defects cause two main disorders, the severe Ullrich congenital muscular dystrophy and the relatively mild and slowly progressive Bethlem myopathy. We analyzed the clinical aspects, pathological features and mutational spectrum of 15

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Alexeev, Vitali, Machiko Arita, Adele Donahue, Paolo Bonaldo, Mon-Li Chu, and Olga Igoucheva. "Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy." Stem Cell Research & Therapy 5, no. 1 (2014): 21. http://dx.doi.org/10.1186/scrt411.

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30

Simsek-Kiper, Pelin Ozlem, Sumeyra Oguz, Fatma Bilge Ergen, Gulen Eda Utine, Mehmet Alikasifoglu, and Goknur Haliloglu. "A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion." Neuropediatrics 51, no. 06 (2020): 445–49. http://dx.doi.org/10.1055/s-0040-1714125.

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AbstractThe genetic etiology of collagen VI related muscular dystrophies is heterogenous. Genomic deletions in one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic variant in the second nondeleted allele have been described in the etiology. We aimed to report the clinical and molecular findings of a 13-year-old boy with ring chromosome 21 who presented to our clinic with easy fatigability, muscle weakness, and waddling gait. Phenotypic delineation along with chromosomal microarray analysis and DNA sequencing were performed. Affymetrix CytoScan Optima array platform and

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31

Aldharee, Hitham, and Hamdan Z. Hamdan. "Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy." Genes 15, no. 11 (2024): 1405. http://dx.doi.org/10.3390/genes15111405.

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Introduction: Bethlem myopathy is a rare genetic disease caused by a variant mapped to 21q22, which harbors the collagen type VI alpha 2 chain (COL6A2) and collagen type VI alpha 1 chain (COL6A1) genes, and 2q37, which harbors the collagen type VI alpha 3 chain (COL6A3) gene. Disease onset can occur at any age, and the symptoms are related to those of muscular dystrophy. Since Bethlem myopathy is a rare disease, no previous studies have been conducted in Arab countries, including Saudi Arabia. Its variable presentation of nonspecific muscular contractions and severity represents a diagnostic d

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Sabatelli, Patrizia, Francesca Gualandi, Sudheer Kumar Gara та ін. "Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis". Matrix Biology 31, № 3 (2012): 187–96. http://dx.doi.org/10.1016/j.matbio.2011.12.003.

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33

Li, Jiayi, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen, and Kai Jiang. "Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report." Medicine 102, no. 49 (2023): e36398. http://dx.doi.org/10.1097/md.0000000000036398.

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Rationale: Mutations in the gene encoding type VI collagen cause Bethlem myopathy (MIM 158810) and Ullrich congenital muscular dystrophy (MIM 254090); 2 diseases previously recognized as completely independent, and have been increasingly recognized. However, collagen-related myopathy caused by intron variation in the COL6 gene is rarely reported in China. Ullrich congenital muscular dystrophy is an autosomal recessive disorder that leads to severe muscle weakness with early onset. Thus, children may never walk independently, with proximal joint contractures and significant hyperelastic distal

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El-Sobky, Tamer A., Hala Abdulhady, Shady Mahmoud, and John Amen. "Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review." Journal of Musculoskeletal Surgery and Research 8 (January 31, 2024): 11–23. http://dx.doi.org/10.25259/jmsr_229_2023.

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Our objective was to screen the literature on congenital muscular dystrophy (CMD) children/adolescents regarding the extent/nature of reporting orthopedic manifestations/deformities and to assess its appropriateness in informing clinical practice/research. We searched PubMed for original research on orthopedic surgical/non-surgical manifestations of CMD. Eligible articles needed to focus on orthopedic manifestations/deformities as one of the study objectives with no restrictions on study designs/types or search period. Eight hundred and thirty articles were initially identified and screened. F

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Bolduc, V., A. Foley, H. Solomon Degefa, et al. "O.10A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy." Neuromuscular Disorders 29 (October 2019): S40—S41. http://dx.doi.org/10.1016/j.nmd.2019.06.028.

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Bolduc, Véronique, Katherine Sizov, Apurva Sarathy, Yaqun Zou, and Carsten G. Bönnemann. "150. Further Development of an Allele-Specific Gene Silencing Strategy to Correct a Dominant-Negative Mutation Causing Collagen VI-Related Muscular Dystrophy." Molecular Therapy 24 (May 2016): S60. http://dx.doi.org/10.1016/s1525-0016(16)32959-8.

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Deconinck, Nicolas, and Tanya Stojkovic. "Ullrich Congenital Dystrophy and Bethlem Myopathy: Current Knowledge on the Clinical Spectrum, Pathogenesis, and Future Therapeutic Avenues of Collagen VI Related Muscular Dystrophies." Current Pediatric Reviews 5, no. 1 (2009): 28–35. http://dx.doi.org/10.2174/157339609787587573.

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38

Hicks, D., A. K. Lampe, S. H. Laval, et al. "T.O.1 Cyclosporin A as a potential treatment for collagen VI-related muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue." Neuromuscular Disorders 18, no. 9-10 (2008): 831. http://dx.doi.org/10.1016/j.nmd.2008.06.376.

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39

Natera-de Benito, Daniel, A. Reghan Foley, Cristina Domínguez-González, et al. "Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies." Neurology 96, no. 10 (2021): e1413-e1424. http://dx.doi.org/10.1212/wnl.0000000000011499.

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ObjectiveTo accurately categorize the phenotypes of individuals with collagen VI–related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to improve clinical trial readiness.MethodsThis retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary function with the initial maximal motor ability achieved in individuals with COL6-RD.ResultsWe studied 119 patients with COL6-RD from Spain (n = 54) and the United States (n = 65). The earl

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40

Martoni, E., A. Urciuolo, C. Trabanelli, et al. "EM.P.4.03 Extensive sequencing of COL6A genes in a cohort of 65 patients with collagen type VI related myopathies. Focus on splicing mutations causing Ullrich congenital muscular dystrophy." Neuromuscular Disorders 19, no. 8-9 (2009): 607. http://dx.doi.org/10.1016/j.nmd.2009.06.200.

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Freiburg, Carolin D., Herimela Solomon-Degefa, Patrick Freiburg та ін. "The UCMD-Causing COL6A1 ( c . 930 + 189 C > T ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains". Human Mutation 2023 (6 вересня 2023): 1–16. http://dx.doi.org/10.1155/2023/6892763.

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Collagen VI is a unique member of the collagen family. Its assembly is a complex multistep process and the vulnerability of the process is manifested in muscular diseases. Mutations in COL6A1, COL6A2, and COL6A3 lead to the severe Ullrich Congenital Muscular Dystrophy (UCMD) and a spectrum of disease of varying severity including the milder Bethlem muscular dystrophy. The recently identified dominant intronic mutation in COL6A1 ( c . 930 + 189 C > T ) leads to the partial in-frame insertion of a pseudoexon between exon 11 and exon 12. The pseudoexon is translated into 24 amino acid residues

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Benati, Daniela, Eleonora Cattin, Federico Corradi, et al. "Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts." Biomolecules 14, no. 11 (2024): 1412. http://dx.doi.org/10.3390/biom14111412.

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Collagen VI is an essential component of the extracellular matrix (ECM) composed by α1, α2 and α3 chains and encoded by COL6A1, COL6A2 and COL6A3 genes. Dominant negative pathogenic variants in COL6A genes result in defects in collagen VI protein and are implicated in the pathogenesis of muscular diseases, including Ullrich congenital muscular dystrophy (UCMD). Here, we designed a CRISPR genome editing strategy to tackle a dominant heterozygous deletion c.824_838del in exon 9 of the COL6A1 gene, causing a lack of secreted collagen VI in a patient’s dermal fibroblasts. The evaluation of efficie

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Lampe, A. K. "Collagen VI related muscle disorders." Journal of Medical Genetics 42, no. 9 (2005): 673–85. http://dx.doi.org/10.1136/jmg.2002.002311.

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de Souza, Paulo Victor Sgobbi, Thiago Bortholin, Jhonatan Rafael Siqueira Pinheiro, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira. "Collagen type VI-related myopathy." Practical Neurology 17, no. 5 (2017): 406–7. http://dx.doi.org/10.1136/practneurol-2017-001661.

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Reed, Umbertina Conti, Lucio Gobbo Ferreira, Enna Cristina Liu, et al. "Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity." Arquivos de Neuro-Psiquiatria 63, no. 3b (2005): 785–90. http://dx.doi.org/10.1590/s0004-282x2005000500013.

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Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild mo

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Knupp, Carlo, N. H. Victor Chong, Peter M. G. Munro, Philip J. Luthert, and John M. Squire. "Analysis of the Collagen VI Assemblies Associated with Sorsby's Fundus Dystrophy." Journal of Structural Biology 137, no. 1-2 (2002): 31–40. http://dx.doi.org/10.1006/jsbi.2002.4449.

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Sipilä, Laura, Heli Ruotsalainen, Raija Sormunen, et al. "Secretion and Assembly of Type IV and VI Collagens Depend on Glycosylation of Hydroxylysines." Journal of Biological Chemistry 282, no. 46 (2007): 33381–88. http://dx.doi.org/10.1074/jbc.m704198200.

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Most lysines in type IV and VI collagens are hydroxylated and glycosylated, but the functions of these unique galactosylhydroxylysyl and glucosylgalactosylhydroxylysyl residues are poorly understood. The formation of glycosylated hydroxylysines is catalyzed by multifunctional lysyl hydroxylase 3 (LH3) in vivo, and we have used LH3-manipulated mice and cells as models to study the function of these carbohydrates. These hydroxylysine-linked carbohydrates were shown recently to be indispensable for the formation of basement membranes (Ruotsalainen, H., Sipilä, L., Vapola, M., Sormunen, R., Salo,

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Telfer, W. R., A. S. Busta, C. G. Bonnemann, E. L. Feldman, and J. J. Dowling. "Zebrafish models of collagen VI-related myopathies." Human Molecular Genetics 19, no. 12 (2010): 2433–44. http://dx.doi.org/10.1093/hmg/ddq126.

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Solomon-Degefa, Herimela, Jan M. Gebauer, Cy M. Jeffries та ін. "Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations". Journal of Biological Chemistry 295, № 36 (2020): 12755–71. http://dx.doi.org/10.1074/jbc.ra120.014865.

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Collagen VI is a ubiquitous heterotrimeric protein of the extracellular matrix (ECM) that plays an essential role in the proper maintenance of skeletal muscle. Mutations in collagen VI lead to a spectrum of congenital myopathies, from the mild Bethlem myopathy to the severe Ullrich congenital muscular dystrophy. Collagen VI contains only a short triple helix and consists primarily of von Willebrand factor type A (VWA) domains, protein–protein interaction modules found in a range of ECM proteins. Disease-causing mutations occur commonly in the VWA domains, and the second VWA domain of the α3 ch

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Meilleur, K., J. Elliott, M. Linton, et al. "Validation of actiGraph GT3X accelerometers in collagen 6-related muscular dystrophy and LAMA2-related muscular dystrophy." Neuromuscular Disorders 25 (October 2015): S265—S266. http://dx.doi.org/10.1016/j.nmd.2015.06.289.

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