title: Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.
abstract: Miyoshi myopathy is characterized by weakness of the calf muscles during early adulthood. We report a case of late-onset Miyoshi myopathy presenting at 48 years of age, with novel mutations in the dysferlin gene. Muscle computed tomography clearly revealed severe atrophy in the soleus and medial gastrocnemius muscles. Even older patients with atrophy in the posterior compartment of the distal lower extremities and a relatively high serum creatine kinase level should be examined for the dysferlin gene.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Masashi
authors.initials: M
authors.lastname: Aoki
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Takahashi
authors.forename: Daiki
authors.initials: D
authors.lastname: Takano
authors.forename: Masahiro
authors.initials: M
authors.lastname: Asano
authors.forename: Yusei
authors.initials: Y
authors.lastname: Shiga
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Onodera
authors.forename: Maki
authors.initials: M
authors.lastname: Tateyama
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D000073939:Dysferlin; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D009133:Muscular Atrophy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009135:Muscular Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins