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Dissertations / Theses on the topic 'Myotonia'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 July 2025

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1

Meyer, Alayne. "Genotype-phenotype correlations and characterization of medication use in inherited myotonic disorders." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu155506792600104.

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2

Villeneuve, Josée. "Évaluation du recours au test génétique chez les personnes à risque de la dystrophie myotonique au Saguenay-Lac-St-Jean /." Thèse, Chicoutimi : Université du Québec à Chicoutimi, 2001. http://theses.uqac.ca.

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3

Brisson, Diane. "Évaluation de la variabilité génotypique et phénotypique, intrafratrie, dans la dystrophie myotonique de Steinert /." Thèse, Ste-Foy : Chicoutimi : Université Laval. Université du Québec à Chicoutimi, 1999. http://theses.uqac.ca.

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4

Novak, Kevin Richard. "Novel Mechanisms Underlying Warm-up and Percussion Myotonia in Myotonia Congenita." Wright State University / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=wright1496183981178166.

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5

Burge, J. A. "Mechanisms of phenotypic variability in Myotonia Congenita." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1401157/.

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The severity of Myotonia Congenita varies not only across individuals with different CLCN1 genotypes, but also within a pedigree, and can even fluctuate over time within a single individual in response to environmental circumstances. The functional consequences of eight naturally occurring sequence variants in the skeletal muscle chloride channel gene, CLCN1, were examined by whole cell patch-clamp of HEK293T cells expressing the gene product, ClC-1, in order to investigate potential differences in their mechanisms of pathogenicity. G276D and G523D caused complete loss of function, while S289G
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6

Chaiklieng, Sunisa. "Low chloride conductance myotonia - in vitro investigations on muscle stiffness and the warm-up phenomenon." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-61365.

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7

Papponen, H. (Hinni). "The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514286926.

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Abstract Functional defects in the muscle specific chloride channel ClC-1 result in reduced chloride conductance and electrical hyperexcitability, which in turn impairs muscle relaxation and leads to myotonia. The gene CLCN 1 codes for ClC-1 in humans, and mutations in CLCN 1 cause the disease known as myotonia congenita. Worldwide over 80 mutations in CLCN1 have been described, but only three were found in patients in Northern Finland. These included two missense mutations and a nonsense mutation. The behavior and localization of the normal and mutated ClC-1 mRNA and protein were analyzed in
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8

Amior, N. "Developing models to study the mechanisms of weakness and myotonia in Periodic Paralysis." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10044636/.

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Periodic paralysis (PP) is a disorder characterised by episodic attacks of paralysis, caused by mutations of skeletal muscle voltage gated ion channels. Although episodes eventually subside, patients develop progressive muscle weakness and frequently, myopathy. The relationship between this progression and the associated mutations is not understood. I propose that the longer term defect might result from disordered calcium signalling secondary to altered excitability, and its impact on mitochondrial function. I sought models where these aspects of muscle signalling could be studied. These were
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9

Braida, Claudia. "Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis." Thesis restricted. Connect to e-thesis to view abstract, 2008. http://theses.gla.ac.uk/359/.

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Thesis (Ph.D.) - University of Glasgow, 2008.<br>Ph.D. thesis submitted to the Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, 2008. Includes bibliographical references. Print version also available.
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10

Goers, Emily Sarah Marie. "The muscleblind protein family's RNA sequence elements, structural elements and novel binding sites defend through SELEX /." Connect to title online (Scholars' Bank) Connect to title online (ProQuest), 2008. http://hdl.handle.net/1794/9173.

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Thesis (Ph. D.)--University of Oregon, 2008.<br>Typescript. Includes vita and abstract. Includes bibliographical references (leaves 93-106). Also available online in Scholars' Bank; and in ProQuest, free to University of Oregon users.
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11

Fialho, D. "Clinical, genetic and electrophysiological study of skeletal muscle channelopathies : new insights into myotonia congenita and Andersen-Tawil syndrome." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18909/.

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This thesis examines clinical characteristics, molecular genetic aspects and electrophysiological features of two muscle channelopathies - myotonia congenita (MC) and Andersen-Tawil syndrome (ATS). MC is a muscle stiffness disorder caused by mutations in the skeletal muscle chloride channel gene CLCN1. A detailed genotype-phenotype analysis was undertaken in an initial MC cohort (22 families). A screening strategy for genetic testing was developed and applied to a larger cohort (303 cases). Twenty-three novel mutations and a high proportion of dominant MC predominantly due to four novel mutati
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12

Hawash, Ahmed Alaa. "Persistent Inward Currents Play a Role in Muscle Dysfunction Seen inMyotonia Congenita." Wright State University / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=wright1500932300888521.

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13

Pontual, Laure de. "Identification de nouveaux facteurs chimiques capables de moduler l'instabilité des répétitions CTG dans la dystrophie myotonique de type 1." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS198.pdf.

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La dystrophie myotonique de type 1 (DM1) est la dystrophie la plus fréquente chez l'adulte avec une prévalence estimée à 1 : 8000 individus. C'est une maladie multi-systémique caractérisée par des atteintes musculaires, cardiaques, cognitives et digestives responsables d'une réduction de l'espérance et de la qualité de vie des patients. Elle est causée par une expansion anormale de répétitions CTG en 3'UTR du gène DMPK. Dans la population générale, le nombre de répétitions est inférieur à 35 CTG tandis qu'il dépasse 50 CTG et peut atteindre jusqu'à plusieurs milliers de répétitions chez les pa
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14

Ulzi, G. "MIOTONIA CONGENITA:CARATTERIZZAZIONE IN MODELLI IN VITRO DI MUTANTI DEL CANALE DEL CLORO MUSCOLARE CLC-1." Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/217465.

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Myotonia congenita (MC) belongs to the group of non-dystrophic myotonia and can be inherited either by an autosomal dominant (Thomsen’s disease) or recessive manner (Becker’s disease). It is characterized by impaired muscle relaxation after voluntary contraction and variable degrees of muscle weakness. MC is caused by mutations in the CLCN1 gene on chromosome 7q35 encoding the major skeletal muscle chloride channel CLC-1. It is well established that chloride channels play a role in the regulation of the muscle membrane and thus participate in the maintenance of the resting potential. Their ina
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15

Edin, Joel. "Alternativ splicing i mänsklig sjukdom." Thesis, Linköping University, Linköping University, Department of Physics, Chemistry and Biology, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-57545.

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<p>Exoner är de sekvenser i DNA vilka rymmer koden för proteiner i människan och i alla andra organismer. Intronerna, vilka utgör utrymmet mellan exoner, består av ickekodande sekvenser och kontrollelement. Exoner tillhörande en gen måste inte alltid inkluderas i den slutliga mRNA produkten, alternativ splicing tillåter exkludering av vissa sekvenser och gör att en gen kan ha mer än en mRNA produkt, därigenom kan en gen koda för flera olika proteiner. Alternativ splicing är ett fält som snabbt utvecklas och dess relevans för många sjukdomar har blivit uppenbar. Detta arbete går igenom ett fler
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16

Stahl, Kristina [Verfasser], and Benedikt [Akademischer Betreuer] Schoser. "Klinische Untersuchung zur Dyslexie bei Myotoner Dystrophie Typ 1 und Bildungsniveau bei Patienten mit Myotonen Dystrophien / Kristina Stahl ; Betreuer: Benedikt Schoser." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2018. http://d-nb.info/1163949051/34.

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17

Machuca-Tzili, Laura E. "Molecular basis of myotonic dystrophy." Thesis, University of Nottingham, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.440000.

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18

Romeo, Vincenzo. "Brain involvement in myotonic dystrophies." Doctoral thesis, Università degli studi di Padova, 2009. http://hdl.handle.net/11577/3426050.

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Objective: to determine the degree of brain involvement in a cohort of DM1 and DM2 patients by brain investigations and functional tests and to compare the results of the two groups. Background: Myotonic Dystrophies type 1 and type 2 (DM1, DM2) are multisystemic disorders due to polynucleotide expansions. Previous studies on brain involvement by neuroimaging and functional methods led to contradictory results. Materials and methods: 50 molecularly defined DM1 and 14 DM2, were recruited for the study. Age at recruitment, age at disease onset, disease duration and educational level were recorde
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19

Winchester, Catherine Louisa. "Expression of myotonic dystrophy candidate proteins." Thesis, Imperial College London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.265141.

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20

Coonrod, Leslie, and Leslie Coonrod. "Targeting Myotonic Dystrophy with Small Molecules." Thesis, University of Oregon, 2012. http://hdl.handle.net/1794/12379.

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Myotonic dystrophy (DM) is one of the most common forms of muscular dystrophy, characterized by its hallmark symptom myotonia. DM is an autosomal dominant disease caused by a toxic gain of function RNA. The toxic RNA is produced from expanded non-coding CTG/CCTG repeats, and these CUG/CCUG repeats sequester a family of RNA binding proteins. The Muscleblind-like (MBNL) family of RNA binding proteins are sequestered to the expanded CUG/CCUG repeats. The MBNL proteins are regulators of alternative splicing, and their sequestration to the toxic RNA leads to mis-splicing events, which are believed
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21

Wang, Eric T. (Eric Tzy-shi). "Alternative isoform regulation in myotonic dystrophy." Thesis, Massachusetts Institute of Technology, 2012. http://hdl.handle.net/1721.1/70816.

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Thesis (Ph. D.)--Harvard-MIT Program in Health Sciences and Technology, 2012.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references.<br>Myotonic dystrophy (DM) is the most common form of adult onset muscular dystrophy, affecting more than 1 in 8000 individuals globally. The symptoms of DM are multi-systemic and include myotonia, severe muscle wasting, cardiac arrhythmias, cataracts, gastrointestinal dysfunction, and cognitive deficits. DM is caused by the expansion of CTG or CCTG repeat sequences expressed in noncoding portions of RNA, which sequester or activate RNA
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22

Sabourin, Luc. "Myotonic dystrophy: A study of the expression of the myotonic dystrophy gene in affected tissues and cells." Thesis, University of Ottawa (Canada), 1995. http://hdl.handle.net/10393/9871.

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Recently, the molecular basis of myotonic dystrophy(DM) has been characterized as an unstable trinucleotide CTG repeat amplification in the 3' untranslated region of a gene encoding a protien with serine/threonine kinase activity. As a first step towards understanding the molecular mechanisms underlying DM, we have analyzed the amplification of the CTG repeat and the DM kinase (DMK) mRNA steady state levels in tissues and cell lines obtained from normal and congenital DM individuals. We have raised polyclonal antibodies against human DMK fusion protein and undertook DMK protein expression anal
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23

Gagnon, Cynthia, and Cynthia Gagnon. "Conséquences fonctionnelles et sociales de la dystrophie myotonique : impacts des facteurs personnels et environnementaux sur la participation sociale." Doctoral thesis, Université Laval, 2007. http://hdl.handle.net/20.500.11794/19703.

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But : Le but de ce programme était de décrire et d’expliquer la participation sociale des personnes atteintes de dystrophie myotonique de type 1 (DM1). Méthode : Un échantillon aléatoire de 200 patients atteints de DM1 (phénotype léger (42) ou adulte (158)) a été recruté. La participation et la satisfaction dans la réalisation des habitudes de vie a été évaluée avec la Mesure des Habitudes de Vie (MHAVIE). Les facteurs environnementaux ont été évalués avec la Mesure de la Qualité de l’Environnement. Les facteurs personnels incluant la force musculaire, l’équilibre, la dextérité fine, la fatigu
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24

Tran-Ladam, Hélène. "Mécanismes moléculaires associés aux changements d'épissage de Tau dans une Tauopathie, la dystrophie myotonique de type 1." Thesis, Lille 2, 2010. http://www.theses.fr/2010LIL2S037/document.

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La pathologie Tau est une lésion neuronale commune à plus d’une vingtaine de maladies neurodégénératives. Elle correspond à l’agrégation des protéines Tau anormalement modifiées. Les mécanismes moléculaires impliqués dans l’agrégation de Tau demeurent encore mal compris. Toutefois, parmi les différentes hypothèses étiologiques, celle d’une dérégulation de l’épissage alternatif de Tau nous intéresse tout particulièrement. Ici, nous considérons la dystrophie myotonique de type 1 (DM1) comme maladie « modèle » pour étudier cette relation, puisqu’elle présente à la fois une dérégulation de l’épiss
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25

Bogdanovic, Marko D. "Cerebral Structure and Function in Myotonic Dystrophy." Thesis, University of Manchester, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.501971.

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26

Li, Xin. "Screening for drugs to treat myotonic dystrophy." Thesis, University of Nottingham, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.659218.

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Myotonic Dystrophy (DM) is the most common form of muscular dystrophy in adults with an occurrence of about 1 in 8000 people. DM type 1 (DM1) is caused an expanded CTG triplet repeat within the 3' -untranslated region (3' -UTR) of the Myotonic Dystrophy protein kinase (DMPK) gene, while type 2 (DM2) is caused by an expanded CCTG repeat in intron I of the Zinc Finger 9 gene (ZNG9) gene. In DM, the mutant DMPK transcripts are trapped within nucleus and fOlm ribonuclear foci which interact with alternative splicing factors including MBNL and CUG-BP proteins. The abnormal levels of splicing factor
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27

Klesert, Todd Robert. "The DMAHP/SIX5 gene in myotonic dystrophy /." Thesis, Connect to this title online; UW restricted, 1999. http://hdl.handle.net/1773/6355.

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28

Boland-Freitas, Robert. "Muscle And Nerve Excitability In Myotonic Dystrophy." Thesis, The University of Sydney, 2019. https://hdl.handle.net/2123/21289.

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Abstract: Myotonic dystrophy is the most common form of muscular dystrophy in adults. Both subtypes, Type 1 (DM1) and Type 2 (DM2), affect multiple body systems. Myotonia and muscle atrophy are common to DM1 and DM2 and contribute to morbidity. The main purpose of this thesis was to elucidate aspects of muscle and nerve function in these conditions. To do this, the neurophysiological techniques of skeletal muscle and axonal excitability assessment, in addition to quantitative sensory thermal thresholds testing were used. Given that relationships between serum electrolyte levels and muscle exci
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29

Antonio, Marie de. "Statistiques et modèles de survie pour améliorer la connaissance d’une maladie rare, la dystrophie myotonique The DM-Scope registry: a rare disease innovative framework bridging the gap between research and medical care Unraveling the myotonic dystrophy type 1 clinical spectrum: a systematic registry-based study - Implications for disease classification." Thesis, Sorbonne université, 2020. http://www.theses.fr/2020SORUS096.

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La dystrophie myotonique (DM) est considérée comme l'une des maladies neuromusculaires les plus complexes. Bien que les travaux de recherche de ces 30 dernières années aient permis de mieux comprendre les mécanismes moléculaires sous-jacents, la nature de l'anomalie génétique hors norme, son expression multisystémique et son large spectre clinique ne permettent pas, à l'heure actuelle, une prise en charge optimale des patients. Mon travail a eu pour but d'approfondir les connaissances et de préciser l'histoire naturelle de cette maladie rare. La première partie du manuscrit est consacrée à la
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30

Potvin, Lynn. "Étude descriptive de la mortalité dans la dystrophie myotonique au Saguenay-Lac-Saint-Jean /." Thèse, Chicoutimi : Université du Québec à Chicoutimi, 1994. http://theses.uqac.ca.

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Mémoire (M.Med.Exp.)-- Université du Québec à Chicoutimi, 1994.<br>Ce mémoire a été réalisé à l'Université du Québec à Chicoutimi dans le cadre du programme de maîtrise en médecine expérimentale (volet génétique) extensionné de l'Université Laval à l'UQAC. CaQCU Document électronique également accessible en format PDF. CaQCU
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31

Winblad, Stefan. "Myotonic dystrophy type 1 : cognition, personality and emotion /." Göteborg : Göteborg University, Dept. of Psychology, 2006. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=015464022&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.

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32

Haworth, Christine. "Understanding the pathogenesis of myotonic dystrophy type 1." Thesis, University of Glasgow, 2008. http://theses.gla.ac.uk/478/.

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To identify the full range of targets and the pathogenic consequences, we sought to mimic the pathogenesis of myotonic dystrophy type 1 with temporal and spatial control: temporal to reproduce the developmental pathogenesis of the congenital form, and spatial to isolate tissue specific pathology. To do this, we attempted to use the Cre-lox system for the conditional expression of an EGFP reporter-linked expanded CUG repeat RNA in the mouse. Expression of the transgene was controlled by Cre excision of a transcriptional stop, placed upstream of the EGFP-expanded repeat open reading frame. The t
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33

Newman, Emma E. "An investigation into molecular basis of myotonic dystrophy." Thesis, University of Nottingham, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.310951.

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34

Osborne, Robert J. "Caenorhabditis elegans models of myotonic dystrophy type 1." Thesis, University of Nottingham, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.408632.

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35

Fardaei, Majid. "Studies on the molecular mechanism underlying myotonic dystrophy." Thesis, University of Nottingham, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.272371.

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36

Rusconi, F. "HUMAN MYOTONIC DYSTROPHIES: PROTEOME PROFILING AND DIFFERENTIATION STUDIES." Doctoral thesis, Università degli Studi di Milano, 2010. http://hdl.handle.net/2434/150096.

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Myotonic Dystrophy type 2 (DM2) is caused by a DNA microsatellite expansion within the ZNF9 gene leading to an abnormal splicing pattern largely responsible for the pathological condition. To better define the functional changes occurring in human DM2 myotubes, we performed a quantitative proteome comparison between myotubes of DM2 and control patients using two-dimensional gel electrophoresis followed by mass spectrometry. Our results indicate that the proteins, altered in DM2 cultures, belong to two major functional categories: i) mitochondrial components, with a reduction of Elongation fact
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37

Matloka, Magdalena. "MBNL derivatives for therapeutic application in myotonic dystrophy." Electronic Thesis or Diss., Sorbonne université, 2019. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2019SORUS269.pdf.

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Les Dystrophies Myotoniques de type 1 (DM1) et 2 (DM2) sont des maladies neuromusculaires autosomiques dominantes causées par l’expansion anormale de séquences microsatellites C(C)TG situées respectivement dans la région 3’UTR du gène DMPK et le premier intron du gène ZNF9. Les ARNs mutés contenant les expansions de répétitions sont retenus dans le noyau des cellules sous formes d’agrégats riboprotéiques et séquestrent les protéines de liaison à l’ARN de la famille MBNL conduisant à des dérégulations de l’épissage alternatif associés aux symptômes cliniques. Bien que différentes approches thér
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Prentl, Katrin. "Ergebnisse der chirurgischen Therapie des Zenker Divertikels Myotomie und Divertikelabtragung versus Myotomie und Diverikulopexie /." [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=96392236X.

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Barcelo, Juana M. "Analysis of the unstable mutation responsible for myotonic dystrophy." Thesis, University of Ottawa (Canada), 1997. http://hdl.handle.net/10393/9659.

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Myotonic dystrophy (DM) is an autosomal dominant genetic disease which affects approximately 1 in 8000 individuals globally. This is a multisystemic disorder which primarily targets muscle tissues. The genetic defect underlying DM is a highly unstable trinucleotide CTG repeat sequence located in the 3$\sp\prime$ untranslated region of a gene encoding a protein with serine/threonine protein kinase activity. The number of CTG repeats in non-DM individuals ranges from 5 to 35, whereas in DM individuals it can range from 50 to over 2000. The mechanism of disease and the role of the kinase are curr
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Barceló, Juana M. "Analysis of the unstable mutation responsible for myotonic dystrophy." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp05/nq20990.pdf.

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41

Truong, Brian. "Myotonic dystrophy : the structure of CUG repeats in solution /." view abstract or download text of file, 2007. http://hdl.handle.net/1794/3958.

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42

Udosen, Inyang Udofia. "Development of assays for therapeutic screening in myotonic dystrophy." Thesis, University of Nottingham, 2012. http://eprints.nottingham.ac.uk/14282/.

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Myotonic dystrophy (DM) is an autosomal dominant inherited multisystemic neuromuscular disease. The molecular mechanism for DM is mediated by toxic RNAs containing expanded repeat units. DMI is caused by a CTG repeat expansion in 3'-UTR of the DMPK gene while DM2 is caused by CCTG repeat in intronl of the ZNF9 gene. The molecular features of DM are formation of RNA foci, co-localisation of MBNL proteins with ribonuclear foci, splicing defects of a subset of pre-mRNAs with elevation ofCUGBPI in DMl. In order to develop therapy for DM, assays were designed based on the molecular characteristics
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Langlois, Marc-André. "RNA-based gene therapies for myotonic dystrophy type 1." Thesis, Université Laval, 2003. http://www.theses.ulaval.ca/2003/21404/21404.pdf.

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La dystrophie myotonique de type 1 (DM1) est une maladie neuromusculaire grave qui engendre une perte d’autonomie des patients et diminue leur espérance de vie. Cette maladie est la plus fréquente des dystrophies musculaires chez l’adulte avec une incidence mondiale d’une personne atteinte sur 15 000. Au Québec, cette maladie est d’une importance particulière, car elle touche une personne sur 500 dans les régions du Saguenay et de Charlevoix. La DM1 est causée par l’expansion du triplet CTG situé dans la région 3’ non-codante de la myotonine protéine kinase (DMPK). Toutefois, il a été démontré
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Alwazzan, Madawi. "Analysis of genes and their transcripts in myotonic dystrophy." Thesis, University of Nottingham, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301073.

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Russell, Sarah Louise. "Signalling pathways activatedin type 1 myotonic dystrophylens epithelial cells." Thesis, University of East Anglia, 2010. https://ueaeprints.uea.ac.uk/32249/.

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46

Arya, Sukrat. "The role of muscleblind-like proteins in myotonic dystrophy." Thesis, University of Nottingham, 2014. http://eprints.nottingham.ac.uk/14341/.

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Myotonic dystrophy (DM) is a progressive multisystemic genetic disorder which is inherited as an autosomal dominant trait. There are two subtypes of the disorder, DM type 1 and DM type 2. DM type1 is caused by an expansion of a CTG repeat located in the 3' untranslated region of the DMPK gene on chromosome 19q13.3, whereas DM type 2 is caused by a CCTG expansion in intron 1 of ZNF9 gene located on chromosome 3q. The mutant RNAs containing the expanded CTG/CCTG repeats alters the activity of various alternative splicing factors like Muscleblind-like (MBNL) proteins, which are sequestered in the
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47

Nasser, Khalidah K. "Genetic and symptomatic variations in Myotonic Dystrophy Type 1." Thesis, University of Glasgow, 2016. http://theses.gla.ac.uk/7874/.

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Myotonic dystrophy type 1 (DM1) is an extremely variable genetic disorder showing an autosomal dominant inheritance that is characterised by myotonia, insulin resistance, cardiac conduction defects and cataracts. It is caused by a trinucleotide repeat expansion of CTG sequence located in the 3’-untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene on chromosome 19 at q13.3. The severity of symptoms ranges from mild adult onset to severe congenital form. A characteristic clinical feature of DM1 is anticipation phenomenon where disease severity increases and age of onset dec
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48

VAUTIER, CATHERINE. "La motricite de l'oesophage dans la myotonie de steinert." Amiens, 1990. http://www.theses.fr/1990AMIEM067.

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49

Warf, Michael Bryan. "The regulation of alternative splicing associated with Myotonic Dystrophy." Thesis, University of Oregon, 2009. http://hdl.handle.net/1794/10335.

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xiv, 78 p. : ill. (some col.) A print copy of this thesis is available through the UO Libraries. Search the library catalog for the location and call number.<br>Myotonic Dystrophy (DM) is a genetic disorder with multisystemic symptoms that is caused by expression (as RNA) of expanded repeats of CTG or CCTG in the genome. It is hypothesized that the protein MBNL1 (M[barbelow]uscleb[barbelow]lin[barbelow]d-l[barbelow]ike-1) is sequestered to the expanded CUG or CCUG RNAs. MBNL1 regulates the alternative splicing of a variety of pre-mRNAs and its mis-localization results in mis-splicing of a sub
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50

Renna, L. V. "MOLECULAR BASIS OF SKELETAL MUSCLE ATROPHY IN MYOTONIC DYSTROPHY." Doctoral thesis, Università degli Studi di Milano, 2015. http://hdl.handle.net/2434/333083.

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Myotonic dystrophy (DM) is an autosomal dominant multisystemic disorder characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac dysfunctions, cataracts and insulin-resistance. DM1 is caused by an expanded (CTG)n in the 3’ UTR of the DMPK gene, while DM2 is caused by the expansion of a (CCTG)n repeat in the intron 1 of the CNBP gene. In both forms, the mutant transcripts accumulate in nuclear foci altering the function of some alternative splicing regulators which are necessary for the physiological processing of mRNAs. However, the downstream pathwa
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