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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion inExpand
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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). ThisExpand
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Myotonic dystrophy type 2
Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors haveExpand
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Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
BACKGROUND Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2Expand
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Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
Myotonic dystrophy is an RNA gain-of-function disease caused by expanded CUG or CCUG repeats, which sequester the RNA binding protein MBNL1. Here we describe a newly discovered function for MBNL1 asExpand
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Myotonic dystrophy: RNA pathogenesis comes into focus.
  • L. Ranum, J. Day
  • Biology, Medicine
  • American journal of human genetics
  • 1 May 2004
Myotonic dystrophy (DM)--the most common form of muscular dystrophy in adults, affecting 1/8000 individuals--is a dominantly inherited disorder with a peculiar and rare pattern of multisystemicExpand
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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor‐β binding protein 4, wasExpand
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Genetic mapping of a second myotonic dystrophy locus
We report the mapping of a second myotonic dystrophy locus, myotonic dystrophy type 2 (DM2). Myotonic dystrophy (DM) is a multi-system disease and the most common form of muscular dystrophy inExpand
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Dominantly inherited, non-coding microsatellite expansion disorders.
  • L. Ranum, J. Day
  • Biology, Medicine
  • Current opinion in genetics & development
  • 1 June 2002
Dominantly inherited diseases are generally caused by mutations resulting in gain of function protein alterations. However, a CTG expansion located in the 3' untranslated portion of a kinase gene wasExpand
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Nonsense mutation‐associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene
Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein,Expand
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