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

More general terms

• genetic disease of muscle (inherited myopathy)

Additional terms

• Ullrich myopathy; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/255600