title: [Myotonic dystrophy type 2].
abstract: Myotonic dystrophies (DMs) are autosomal dominant disorders with multisystemic clinical features. DMs are categorized as DM1, caused by a (CTG)n expansion mutation in 19q13, and DM2, caused by a (CCTG)n expansion mutation in 3q21. Clinical feature of DM2 are diffuse and proximal dominant weakness, wasting, myotonia, cardiac problems, cataracts, insulin-resistance. DM2 is considered to milder form than DM1. Here We compared clinical feature in both DMs. We identified a Japanese patient with DM2 and showed clinical features same as a past report. But DM2 is clinically variable, further investigation of Japanese patients is needed in order to confirm these findings in Japan.
authors.affiliation: Department of Neurology, National Hospital Organization, Asahikawa Medical Center.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kimura
mesh_terms: D000328:Adult; D006801:Humans; D008875:Middle Aged; D020967:Myotonic Disorders / Q000175:diagnosis* / Q000503:physiopathology; D009223:Myotonic Dystrophy