myotonic dystrophy

Summary

Summary: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Top Publications

  1. Dansithong W, Jog S, Paul S, Mohammadzadeh R, Tring S, Kwok Y, et al. RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP. EMBO Rep. 2011;12:735-42 pubmed publisher
    We describe a new mechanism by which CTG tract expansion affects myotonic dystrophy (DM1)...
  2. Mohamed S, Pruna L, Kaminsky P. [Increasing risk of tumors in myotonic dystrophy type 1]. Presse Med. 2013;42:e281-4 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is characterized by an unstable expansion of a CTG repeat resulting in altered mRNA biogenesis. Benign or malignant tumours are increasingly reported...
  3. Kierkegaard M, Harms Ringdahl K, Edström L, Widen Holmqvist L, Tollbäck A. Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study. J Rehabil Med. 2011;43:695-702 pubmed publisher
    To investigate the feasibility and effects of a physical exercise programme on functioning and health-related quality of life in adults with myotonic dystrophy type 1.
  4. Dechanet C, Castelli C, Reyftmann L, Coubes C, Hamamah S, Hedon B, et al. Myotonic dystrophy type 1 and PGD: ovarian stimulation response and correlation analysis between ovarian reserve and genotype. Reprod Biomed Online. 2010;20:610-8 pubmed publisher
    This study aimed at evaluating parameters and results of ovarian stimulation for myotonic dystrophy type 1 (DM1) female patients undergoing preimplantation genetic diagnosis (PGD) and to assess an eventual association between genotype and ..
  5. Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012;11:891-905 pubmed publisher
    b>Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterised by progressive myopathy, myotonia, and multiorgan involvement. Two genetically distinct entities have been identified...
  6. Ofori L, Hoskins J, Nakamori M, Thornton C, Miller B. From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy. Nucleic Acids Res. 2012;40:6380-90 pubmed publisher
    ..Most importantly, two compounds are able to partially restore splicing in a mouse model of DM1...
  7. Yu Z, Teng X, Bonini N. Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. PLoS Genet. 2011;7:e1001340 pubmed publisher
    ..are caused by simple DNA repeat expansions; among these, non-coding CTG repeat expansions are the basis of myotonic dystrophy (DM1)...
  8. Jones K, Jin B, Iakova P, Huichalaf C, Sarkar P, Schneider Gold C, et al. RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2. Am J Pathol. 2011;179:2475-89 pubmed publisher
    ..These data suggest that correction of DM1 and DM2 might be achieved by complete and efficient degradation of CUG and CCUG repeats or by a simultaneous disruption of CUG/CCUG foci and correction of CUGBP1 and ZNF9...
  9. Suenaga K, Lee K, Nakamori M, Tatsumi Y, Takahashi M, Fujimura H, et al. Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain. PLoS ONE. 2012;7:e33218 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by a CTG trinucleotide repeat expansion (CTG(exp)) in the DMPK gene...

Scientific Experts

More Information

Publications62

  1. Chamberlain C, Ranum L. Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet. 2012;21:4645-54 pubmed publisher
    b>Myotonic dystrophy (DM) is a multisystemic disease caused by CTG or CCTG expansion mutations...
  2. Johnson N, Heatwole C. Myotonic dystrophy: from bench to bedside. Semin Neurol. 2012;32:246-54 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by muscle weakness, myotonia, and early-onset cataracts...
  3. Kakourou G, Dhanjal S, Mamas T, Serhal P, Delhanty J, SenGupta S. Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis. Fertil Steril. 2010;94:1674-9 pubmed publisher
    To overcome problems associated with the use of triplet repeat primed polymerase chain reaction (TP-PCR) in preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1).
  4. Huguet A, Medja F, Nicole A, Vignaud A, Guiraud Dogan C, Ferry A, et al. Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLoS Genet. 2012;8:e1003043 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is caused by an unstable CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene...
  5. Orpana A, Ho T, Alagrund K, Ridanpää M, Aittomaki K, Stenman J. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1. J Mol Diagn. 2013;15:110-5 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is an autosomal-dominant disease caused by an expansion of CTG repeats in the 3' untranslated region of the Dystrophia Myotonica Protein Kinase (DMPK) gene...
  6. Ravel Chapuis A, Belanger G, Yadava R, Mahadevan M, DesGroseillers L, Cote J, et al. The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing. J Cell Biol. 2012;196:699-712 pubmed publisher
    In myotonic dystrophy type 1 (DM1), dystrophia myotonica protein kinase messenger ribonucleic acids (RNAs; mRNAs) with expanded CUG repeats (CUG(exp)) aggregate in the nucleus and become toxic to cells by sequestering and/or misregulating ..
  7. Panigrahi G, Slean M, Simard J, Gileadi O, Pearson C. Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired. Proc Natl Acad Sci U S A. 2010;107:12593-8 pubmed publisher
    ..trinucleotide repeats, thought to involve slipped DNAs at the repeats, cause numerous diseases including myotonic dystrophy and Huntington's disease...
  8. Tieleman A, Knoop H, van de Logt A, Bleijenberg G, van Engelen B, Overeem S. Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. J Neurol Neurosurg Psychiatry. 2010;81:963-7 pubmed publisher
    In myotonic dystrophy type 1 (DM1), sleep disorders are common, with excessive daytime sleepiness (EDS) as a predominant feature. In myotonic dystrophy type 2 (DM2), the presence of sleep disturbances is unknown.
  9. Mykowska A, Sobczak K, Wojciechowska M, Kozlowski P, Krzyzosiak W. CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res. 2011;39:8938-51 pubmed publisher
    Mutant transcripts containing expanded CUG repeats in the untranslated region are a pathogenic factor in myotonic dystrophy type 1 (DM1)...
  10. Weingarten T, Hofer R, Milone M, Sprung J. Anesthesia and myotonic dystrophy type 2: a case series. Can J Anaesth. 2010;57:248-55 pubmed publisher
    b>Myotonic dystrophy type 2 (DM2) is a genetically distinct disorder that shares some phenotypical features of myotonic dystrophy type 1 (DM1). However, anesthetic management of patients with DM2 has not been described...
  11. Childs Disney J, Stepniak Konieczna E, Tran T, Yildirim I, Park H, Chen C, et al. Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. Nat Commun. 2013;4:2044 pubmed publisher
    ..b>Myotonic dystrophy type 1 is caused by the dysregulation of alternative pre-mRNA splicing due to sequestration of muscleblind-..
  12. Brenner R, Joerg L, Rickli H. Myotonic dystrophy as a potential killer. Acta Cardiol. 2009;64:567-9 pubmed
    ..Anamnesis uncovered that the father as well as a cousin of the patient suffered from myotonic dystrophy (MD)...
  13. Gomes Pereira M, Cooper T, Gourdon G. Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med. 2011;17:506-17 pubmed publisher
    ..RNA toxicity has been best characterised in the context of myotonic dystrophy. Nearly 20 mouse models have contributed significant and complementary insights into specific aspects of ..
  14. Childs Disney J, Hoskins J, Rzuczek S, Thornton C, Disney M. Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS Chem Biol. 2012;7:856-62 pubmed publisher
    ..study, we report that rationally designed, modularly assembled small molecules that bind the RNA that causes myotonic dystrophy type 1 (DM1) are potently bioactive in cell culture models...
  15. Axford M, López Castel A, Nakamori M, Thornton C, Pearson C. Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues. J Med Genet. 2011;48:438-43 pubmed publisher
    Recently, curious mutations have been reported to occur within the (CTG)n repeat tract of the myotonic dystrophy type 1 (DM1) locus...
  16. Vignaud A, Ferry A, Huguet A, Baraibar M, Trollet C, Hyzewicz J, et al. Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. Neuromuscul Disord. 2010;20:319-25 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is a neuromuscular disease caused by the expansion of a CTG repeat in the DMPK gene and characterised by progressive skeletal muscle weakness and wasting...
  17. Hebert L, Remec J, Saulnier J, Vial C, Puymirat J. The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: a multicenter study. BMC Musculoskelet Disord. 2010;11:72 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is a multisystem disorder that demonstrates variable symptoms and rates of progression...
  18. Logigian E, Martens W, McDermott M, Dilek N, Wiegner A, Pearson A, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010;74:1441-8 pubmed publisher
    To determine if mexiletine is safe and effective in reducing myotonia in myotonic dystrophy type 1 (DM1).
  19. Zu T, Gibbens B, Doty N, Gomes Pereira M, Huguet A, Stone M, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A. 2011;108:260-5 pubmed publisher
    ..Additionally, we show that RAN translation across human spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcripts results in the accumulation of SCA8 polyalanine and DM1 polyglutamine ..
  20. Winblad S, Jensen C, Mansson J, Samuelsson L, Lindberg C. Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates. Behav Brain Funct. 2010;6:25 pubmed publisher
    This study was designed to investigate the prevalence and correlates of depression in Myotonic dystrophy type 1 (DM1).
  21. Bhakta D, Groh M, Shen C, Pascuzzi R, Groh W. Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1. Am Heart J. 2010;160:1137-41, 1141.e1 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is a neurologic disorder with known cardiac involvement, including left ventricular systolic dysfunction (LVSD), heart failure (HF), atrioventricular and intraventricular conduction system disease, and ..
  22. Laurent V, Pellieux S, Corcia P, Magro P, Pierre B, Fauchier L, et al. Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices. Int J Cardiol. 2011;150:54-8 pubmed publisher
    ..Our study purports to determine whether implantation of a prophylactic pacemaker in MD patients with HV interval ? 70 ms lowers the risk of sudden death, which may be essentially due to complete atrioventricular block...
  23. Mulders S, van Engelen B, Wieringa B, Wansink D. Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. Hum Mol Genet. 2010;19:R90-7 pubmed publisher
    b>Myotonic dystrophy (DM) is a complex, dominantly inherited, multisystem disorder and the archetypal example of an RNA gain-of-function disease...
  24. Kamsteeg E, Kress W, Catalli C, Hertz J, Witsch Baumgartner M, Buckley M, et al. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet. 2012;20:1203-8 pubmed publisher
    b>Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy...
  25. Peric S, Rakocevic Stojanovic V, Stevic Z, Basta I, Pavlovic S, Vujanac V, et al. Health-related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. Acta Neurol Belg. 2010;110:71-7 pubmed
    ..influence health-related quality of life (HRQoL) in patients with two different neuromuscular disorders - myotonic dystrophy type 1 (DM1) and amyotrophic lateral sclerosis (ALS)...
  26. Lee J, Bennett C, Cooper T. RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci U S A. 2012;109:4221-6 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is an RNA-dominant disease caused by abnormal transcripts containing expanded CUG repeats...
  27. Parkesh R, Childs Disney J, Nakamori M, Kumar A, Wang E, Wang T, et al. Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching. J Am Chem Soc. 2012;134:4731-42 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is a triplet repeating disorder caused by expanded CTG repeats in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene...
  28. Hilbert J, Kissel J, Luebbe E, Martens W, McDermott M, Sanders D, et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials. 2012;33:302-11 pubmed publisher
    ..This report describes the methodology behind the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) Patients and Family Members to facilitate the ..
  29. Rhodes J, Lott M, Russell S, Moulton V, Sanderson J, Wormstone I, et al. Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. Hum Mol Genet. 2012;21:852-62 pubmed publisher
    b>Myotonic dystrophy (DM) is caused by a triplet repeat expansion in the non-coding region of either the DMPK (DM1) or CNBP (DM2) gene. Transcription of the expanded region causes accumulation of double-stranded RNA (dsRNA) in DM cells...
  30. Ward A, Rimer M, Killian J, Dowling J, Cooper T. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet. 2010;19:3614-22 pubmed publisher
    The neuromuscular disease myotonic dystrophy type I (DM1) affects multiple organ systems with the major symptoms being severe muscle weakness, progressive muscle wasting and myotonia...
  31. Massa R, Panico M, Caldarola S, Fusco F, Sabatelli P, Terracciano C, et al. The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. Neuropathol Appl Neurobiol. 2010;36:275-84 pubmed publisher
    b>Myotonic dystrophy type 2 (DM2) is caused by a [CCTG]n intronic expansion in the zinc finger protein 9 (ZNF9) gene...
  32. Coenen M, Tieleman A, Schijvenaars M, Leferink M, Ranum L, Scheffer H, et al. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. Eur J Hum Genet. 2011;19:567-70 pubmed publisher
    b>Myotonic dystrophy type 2 (DM2) is a progressive multisystem disease with muscle weakness and myotonia as main characteristics. The disease is caused by a repeat expansion in the zinc-finger protein 9 (ZNF9) gene on chromosome 3q21...
  33. Childs Disney J, Parkesh R, Nakamori M, Thornton C, Disney M. Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1. ACS Chem Biol. 2012;7:1984-93 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is caused when an expanded r(CUG) repeat (r(CUG)(exp)) binds the RNA splicing regulator muscleblind-like 1 protein (MBNL1) as well as other proteins...
  34. Sobczak K, Wheeler T, Wang W, Thornton C. RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. Mol Ther. 2013;21:380-7 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is an RNA dominant disease caused by expression of DM protein kinase (DMPK) transcripts that contain an expanded CUG repeat (CUG(exp))...
  35. Vanlinthout L, Booij L, Van Egmond J, Robertson E. Comparison of mechanomyography and acceleromyography for the assessment of rocuronium induced neuromuscular block in myotonic dystrophy type 1. Anaesthesia. 2010;65:601-7 pubmed publisher
    ..simultaneously with monitoring of rocuronium-induced neuromuscular block in four patients with myotonic dystrophy type 1...
  36. Sicot G, Gomes Pereira M. RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies. Biochim Biophys Acta. 2013;1832:1390-409 pubmed publisher
    ..RNA toxicity was first described in myotonic dystrophy type 1, a multisystemic disorder caused by the abnormal expansion of a non-coding trinucleotide repeat ..
  37. Foff E, Mahadevan M. Therapeutics development in myotonic dystrophy type 1. Muscle Nerve. 2011;44:160-9 pubmed publisher
    b>Myotonic dystrophy (DM1), the most common adult muscular dystrophy, is a multisystem, autosomal dominant genetic disorder caused by an expanded CTG repeat that leads to nuclear retention of a mutant RNA and subsequent RNA toxicity...
  38. Charizanis K, Lee K, Batra R, Goodwin M, Zhang C, Yuan Y, et al. Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron. 2012;75:437-50 pubmed publisher
    The RNA-mediated disease model for myotonic dystrophy (DM) proposes that microsatellite C(C)TG expansions express toxic RNAs that disrupt splicing regulation by altering MBNL1 and CELF1 activities...
  39. Voet N, van der Kooi E, Riphagen I, Lindeman E, van Engelen B, Geurts A. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2013;:CD003907 pubmed publisher
    ..This is an update of a review first published in 2004...
  40. Russo V, Rago A, Papa A, Politano L, Golino P, Russo M, et al. Does a high percentage of right ventricular pacing influence the incidence of paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients?. Kardiol Pol. 2013;71:1147-53 pubmed publisher
    Paroxysmal atrial tachyarrhythmias occur frequently in myotonic dystrophy type 1 (MD1) patients...
  41. Radvansky J, Resko P, Surovy M, Minarik G, Ficek A, Kadasi L. High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. Anal Biochem. 2010;398:126-8 pubmed publisher
    ..polymorphism, involving a problematic region of five consecutive Alu elements, that is associated with myotonic dystrophy type 1...
  42. Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, et al. Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol. 2013;74:862-72 pubmed publisher
    To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2).
  43. Chen C, Sobczak K, Hoskins J, Southall N, Marugan J, Zheng W, et al. Two high-throughput screening assays for aberrant RNA-protein interactions in myotonic dystrophy type 1. Anal Bioanal Chem. 2012;402:1889-98 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1), the most prevalent form of adult muscular dystrophy, is caused by expansion of a CTG repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene...
  44. Tang Z, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, et al. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Hum Mol Genet. 2012;21:1312-24 pubmed publisher
    b>Myotonic dystrophy type 1 and type 2 (DM1 and DM2) are genetic diseases in which mutant transcripts containing expanded CUG or CCUG repeats cause cellular dysfunction by altering the processing or metabolism of specific mRNAs and miRNAs...
  45. Nakamori M, Gourdon G, Thornton C. Stabilization of expanded (CTG)•(CAG) repeats by antisense oligonucleotides. Mol Ther. 2011;19:2222-7 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the gene DMPK. The expansion is highly unstable in somatic cells, a feature that may contribute to disease progression...
  46. Parkesh R, Fountain M, Disney M. NMR spectroscopy and molecular dynamics simulation of r(CCGCUGCGG)? reveal a dynamic UU internal loop found in myotonic dystrophy type 1. Biochemistry. 2011;50:599-601 pubmed publisher
    The NMR structure of an RNA with a copy of the 5'CUG/3'GUC motif found in the triplet repeating disorder myotonic dystrophy type 1 (DM1) is disclosed...
  47. Velazquez Bernardino P, Garcia Sierra F, Hernandez Hernandez O, Bermudez de Leon M, Gourdon G, Gomes Pereira M, et al. Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells. Mol Biol Rep. 2012;39:415-24 pubmed publisher
    ..Decreased MAP2 levels found in the hippocampus of a DM1 mouse model indicates that targeting of MAPs expression by CTG repeats might be relevant to DM1...
  48. Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S. Alternative splicing of PDLIM3/ALP, for ?-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. Biochem Biophys Res Commun. 2011;409:64-9 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder of muscular dystrophy characterized by muscle weakness and wasting...
  49. Garcia Lopez A, Llamusi B, Orzáez M, Perez Paya E, Artero R. In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models. Proc Natl Acad Sci U S A. 2011;108:11866-71 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is caused by the expansion of noncoding CTG repeats in the dystrophia myotonica-protein kinase gene...
  50. Koshelev M, Sarma S, Price R, Wehrens X, Cooper T. Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Hum Mol Genet. 2010;19:1066-75 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion within the 3'-untranslated region of the DMPK gene...
  51. Sinclair J, Reed P. Risk factors for perioperative adverse events in children with myotonic dystrophy. Paediatr Anaesth. 2009;19:740-7 pubmed publisher
    This study was conducted to identify patient-related, surgical, and anesthetic factors that would help predict adverse events and allow for better planning of perioperative care in children with myotonic dystrophy.
  52. Malatesta M, Giagnacovo M, Costanzo M, Cisterna B, Cardani R, Meola G. Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia. Eur J Histochem. 2013;57:e15 pubmed publisher
    ..and heart in humans and mice, and its deregulation is known to be pivotal in the onset and development of myotonic dystrophy (DM)...
  53. Marteyn A, Maury Y, Gauthier M, Lecuyer C, Vernet R, Denis J, et al. Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy. Cell Stem Cell. 2011;8:434-44 pubmed publisher
    b>Myotonic dystrophy type 1 (DM1) is a multisystem disorder affecting a variety of organs, including the central nervous system...