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myosclerotic myopathy; myosclerosis autosomal recessive; myosclerosis of Lowenthal
Pathology:
- chronic inflammation of skeletal muscle
- hyperplasia of the interstitial connective tissue
Genetics:
- autosomal recessive
- defects in COL6A2 are the cause of myosclerotic myopathy
Clinical manifestations:
- slender muscles with firm 'woody' consistency
- restriction of joint mobility due to muscle contractures
Related
Ullrich myopathy; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 255600
References
OMIM :accession 255600