Distal anterior compartment myopathy with early ankle contractures

Hiroshi Saito, Naoki Suzuki, Hideaki Ishiguro, Koichi Hirota, Yasuto Itoyama, Toshiaki Takahashi, Masashi Aoki

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

Abstract

Dysferlinopathies exhibit marked heterogeneity in the initial distribution of muscle involvement at the onset of the disease. We describe a Japanese patient with dysferlinopathy who exhibited distal anterior compartment myopathy (DACM) with early contractures of the ankle, whose pedigree included patients with two other types of dysferlinopathy. The existence of three phenotypes of dysferlinopathy in one pedigree is reported, indicating the involvement of molecules other than dysferlin in the pathogenesis.

Original languageEnglish
Pages (from-to)525-527
Number of pages3
JournalMuscle and Nerve
Volume36
Issue number4
DOIs
Publication statusPublished - 2007 Oct

Keywords

  • Ankle contracture
  • Distal anterior compartment myopathy
  • Dysferlin
  • Dysferlinopathy
  • Limb-girdle muscular dystrophy
  • Miyoshi myopathy

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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