抄録
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.
| 本文言語 | English |
|---|---|
| ページ（範囲） | 525-527 |
| ページ数 | 3 |
| ジャーナル | Muscle and Nerve |
| 巻 | 36 |
| 号 | 4 |
| DOI | |
| 出版ステータス | Published - 2007 10月 |
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）