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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

The myotonic dystrophies (DMs) are the most common inherited muscular disorders in adults. In most of the cases, the disease is caused by (CTG)(n)/(CCTG)(n) repeat expansions (EXPs) in non-coding regions of the genes DMPK (dystrophia myotonica-protein kinase) and CNBP (CCHC-type zinc-finger nucleic...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt, Hehr, Ute, Müller, Clemens R, Rost, Simone
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027686/
https://ncbi.nlm.nih.gov/pubmed/27222292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.41
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