Core Clinical Phenotypes in Myotonic Dystrophies

doi:10.3389/fneur.2018.00303

Article

Core Clinical Phenotypes in Myotonic Dystrophies

2 May 2018

Abstract excerpt

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of...

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