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

Larsen, Mirjam ; Kress, Wolfram ; Schoser, Benedikt ; Hehr, Ute ; Müller, Clemens R ; Rost, Simone


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 acid-binding protein). The EXP is transcribed into mutant RNAs, which provoke a common ...


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