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Miyoshi myopathy; late-onset distal muscular dystrophy; distal myopathy, Nonaka type
form of muscular dystrophy
Pathology:
- muscular dystrophy
- concentric lamellar bodies & acid phosphatase positive rimmed vacuoles seen on muscle biopsy
Genetics:
- autosomal recessive
- associated with mutations in gene for dysferlin
Clinical manifestations:
- muscle weakness that initially affects the gastrocnemius during early adulthood
- predilection for distal lower limb musculature
- hand & foot muscles relatively spared
- otherwise the phenotype overlaps with LGMD2B, especially in age at onset & creatine kinase elevation
Laboratory:
- serum creatine kinase: mildly elevated
- dysferlin in leukocytes (defective, may or may not be present)
Related
dysferlin; dystrophy-associated fer-1-like protein; fer-1-like protein 1 (DYSF, FER1L1)
General
muscular dystrophy
Database Correlations
OMIM 254130
References
OMIM :accession 254130