Key result
A frameshift mutation in exon 50 (delG5966) of the DYSF gene was identified as the cause of a rapidly progressive distal anterior compartment myopathy in a family.
Population
A family with a new phenotype of autosomal recessive muscle dystrophy with distal onset in the anterior…
Design
Case_report
Authors
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Expands dysferlinopathy phenotypes in one family; leaves open generalizability and clinical relevance pending further cases.
Case Report
Identifies a novel frameshift mutation in the DYSF gene causing a distal anterior compartment myopathy, expanding the known phenotypes of dysferlinopathies.
Illa et al. (2001) conducted a case report in Distal anterior compartment myopathy (dysferlinopathy). A frameshift mutation in exon 50 (delG5966) of the DYSF gene was identified as the cause of a rapidly progressive distal anterior compartment myopathy in a family.
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