Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.
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.
Suzuki
Naoki
N
Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan.
Aoki
Masashi
M
Takahashi
Toshiaki
T
Takano
Daiki
D
Asano
Masahiro
M
Shiga
Yusei
Y
Onodera
Yoshiaki
Y
Tateyama
Maki
M
Itoyama
Yasuto
Y
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
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins