A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy

Satoshi Kuru, Fumihiko Yasuma, Tadashi Wakayama, Seigo Kimura, Masaaki Konagaya, Masashi Aoki, Masaki Tanabe, Toshiaki Takahashi

研究成果: Article査読

36 被引用数 (Scopus)

抄録

A 57-year-old woman first noticed difficulty in walking at the age of 34 years, and since then muscle wasting and weakness in the lower limbs and proximal portion of the upper limbs had progressed slowly. Serum CK was elevated. Immunohistochemical study of the biceps brachii muscle showed deficiency of dysferlin in sarcolemma, and the dysferlin gene analysis disclosed 3370 G→T missense mutation. These findings led us to diagnose her as LGMD2B. Moreover echocardiogram revealed ventricular enlargement and diffuse hypokinesia suggesting secondary cardiomyopathy atributable to muscular dystrophy. Careful cardiac monitoring should be carried out in dysferlinopathy patients.

本文言語English
ページ(範囲)375-378
ページ数4
ジャーナルClinical Neurology
44
6
出版ステータスPublished - 2004 6

ASJC Scopus subject areas

  • 臨床神経学

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