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spheroid body myopathy
Pathology:
- muscle biopsy shows spheroid bodies within the type 1 muscle fibers
Genetics:
- autosomal dominant
- associated with defects in myotilin gene
Clinical manifestations:
- slowly progressing proximal muscle weakness
- dysarthric nasal speech
- no evidence of cardiomyopathy
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 182920
References
OMIM :accession 182920