Article
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
European journal of neurology - 1 Jun 2013
Linssen W H J P, de Voogt W G, Krahn M, Bernard R, Levy N, Wokke J H J, Ginjaar H B, de Visser M
Abstract excerpt
BACKGROUND AND PURPOSE: To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD). METHODS: A long-term clinical follow-up study was conducted. Patients were genotyped for dysferlin (MMD1) or anoctamin 5 (MMD3) mutations. Patients also underwent cardiological evaluation. RESULTS: There were 10 patients with MMD1, eight patients with MMD3 and four...
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