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congenital myopathy with fiber-type disproportion
Pathology:
- relative hypotrophy of type 1 muscle fibers compared to type 2 muscle fibers on skeletal muscle biopsy (not specific)
Genetics:
- genetically heterogeneous
- associated with defects in ACTA1
General
genetic disease of muscle (inherited myopathy)
congenital anomaly (birth defect)
Database Correlations
OMIM 255310
References
OMIM :accession 255310