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X-linked myopathy with postural muscle atrophy (XMPMA)
Genetics:
- X-linked recessive
- associated with defects in FHL1
Clinical manifestations:
- weakness & atrophy of voluntary skeletal muscle
- adult-onset*
- pseudoathletic phenotype*
- scapuloperoneal weakness*
- bent spine*
* distinguishes from other myopathies
General
genetic disease of muscle (inherited myopathy)
X-linked disease
Database Correlations
OMIM 300696
References
OMIM :accession 300696