title: Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.
abstract: Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot-Marie-Tooth disease (CMTX1) are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. The underlying causes of the DM1 and CMTX1 are mutations in the DMPK and GJB1 gene, respectively. A patient with both DM1 and CMTX1 inherited these from his father and mother, respectively. Histopathological and electrodiagnostic studies revealed both chronic neuropathic and myopathic features. Physical disabilities were more severe than seen with either DM1 or CMTX1 alone. In addition, the present case reveals an asymmetric atrophy (22%) of the right calf muscle compared to the left side.
authors.affiliation: Department of Neurology, CHA University School of Medicine, Sungnam, Korea.
authors.forename: Hyun Sook
authors.initials: HS
authors.lastname: Kim
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.forename: Sung Hee
authors.initials: SH
authors.lastname: Kang
authors.forename: Sung Kyung
authors.initials: SK
authors.lastname: Choi
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.forename: Heasoo
authors.initials: H
authors.lastname: Koo
authors.forename: Sang-Beom
authors.initials: SB
authors.lastname: Kim
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D041321:Chromosomes, Human, X; D004594:Electrophysiology / Q000379:methods; D005192:Family Health; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA