myosclerosis, autosomal recessive

(redirected from Löwenthal sclerosis)

myosclerosis, autosomal recessive

An extremely rare (a single family reported in the literature) condition (OMIM:255600) characterised by chronic inflammation of slender skeletal muscles with firm consistency, accompanied by hyperplasia of the interstitial connective tissue and restriction of movement of multiple joints due to muscle contractures.
 
Molecular pathology
Caused by defects of COL6A2, which encodes the alpha-1 subunit of collagen VI, a cell-binding protein.