Key result
Genetic analysis of 4 patients with Miyoshi distal myopathy from 2 Chinese families revealed compound heterozygous mutations in the dysferlin gene, including 3 novel mutations.
Population
4 patients with Miyoshi distal myopathy from 2 unrelated Chinese families
Design
Case_series
Authors
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May aid genetic diagnosis in similar families; leaves open validation and prevalence studies in larger cohorts.
Case Report (n=4)
Identified novel compound heterozygous mutations in the dysferlin gene in Chinese families with Miyoshi distal myopathy.
Ro et al. (2004) conducted a case report in Miyoshi distal myopathy (n=4). Genetic analysis and clinical observation was evaluated on Clinical, neurophysiological, histopathological, and genetic features. Genetic analysis of 4 patients with Miyoshi distal myopathy from 2 Chinese families revealed compound heterozygous mutations in the dysferlin gene, including 3 novel mutations.
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