Article
Clinical heterogeneity in dysferlinopathy.
Internal medicine (Tokyo, Japan) - 1 Jul 2002
Ueyama Hidetsugu, Kumamoto Toshihide, Horinouchi Hideo, Fujimoto Shin, Aono Hiroshi, Tsuda Tomiyasu
Abstract excerpt
OBJECTIVE: To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy. METHODS: We evaluated clinical parameters of 74 dysferlinopathy patients with known dysferlin gene mutations who were previously reported in the literature. RESULTS: The age at onset varied from 12 to 59 years (mean 21.7 years). Based on the initial distribution of muscle involvement, clinical phenotypes were...
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