Novel dysferlin mutations and characteristic muscle atrophy in late-onset miyoshi myopathy

Naoki Suzuki, Masashi Aoki, Toshiaki Takahashi, Daiki Takano, Masahiro Asano, Yusei Shiga, Yoshiaki Onodera, Maki Tateyama, Yasuto Itoyama

研究成果: Article査読

13 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)721-723
ページ数3
ジャーナルMuscle and Nerve
29
5
DOI
出版ステータスPublished - 2004 5

ASJC Scopus subject areas

  • 生理学
  • 臨床神経学
  • 細胞および分子神経科学
  • 生理学(医学)

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