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reducing body myopathy
Epidemiology:
- rare
Pathology:
- progressive muscular weakness
- characteristic intracytoplasmic inclusions in myofibers
Genetics:
- X-linked recessive
- associated with defects in FHL1
- allelic forms of
a) severe early-onset reducing body myopathy [1]
b) childhood-onset [2]
Clinical manifestations:
- progressive muscular weakness
- variable from early onset fatal to childhood onset to adult onset cases
General
genetic disease of muscle (inherited myopathy)
X-linked disease
Database Correlations
OMIM correlations
References
- OMIM :accession 300717
- OMIM :accession 300718