Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality

K. Tanaka, T. Yoshimura, H. Muratani, J. Kira, Y. Itoyama, I. Goto

研究成果: Contribution to journalArticle査読

6 被引用数 (Scopus)

抄録

A 37-year-old woman with scapulohumeral muscular atrophy, rigid spine and cardiopathy is reported. Muscle weakness, advanced atrioventricular block and contractures at the neck, elbows and ankles had occurred during her childhood. An autosomal dominant mode of inheritance was suggested because her mother, sister and brother had the same disorder. Pleomorphic mitochondria had accumulated in the subsarcolemmal space of the skeletal muscle. There was no evident enzyme defect in the mitochondrial electron transport system. Although the clinical features had some similarity with those of Emergy-Dreifuss muscular dystrophy or rigid spine syndrome, the pattern of inheritance and the muscle pathology differed.

本文言語英語
ページ(範囲)52-54
ページ数3
ジャーナルJournal of Neurology
236
1
DOI
出版ステータス出版済み - 1 1989

All Science Journal Classification (ASJC) codes

  • 神経学
  • 臨床神経学

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