Atypical nemaline myopathy with temporomandibular ankylosis.
A young girl who initially presented with jaw hypomobility at age 4 years subsequently developed signs of a slowly progressive myopathy. Rods were found in all sampled muscles, and were associated with fibrous contractures in the temporomandibular joint muscles. Rods in fibers undergoing necrosis displayed a pattern of degradation that was almost identical to the pattern induced by calcium-activated neutral protease in vitro. It appears that this patient had nemaline myopathy, atypical in both clinical presentation and pathologic lesions.
D000844:Ankylosis / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008410:Masticatory Muscles / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D013706:Temporomandibular Joint Dysfunction Syndrome / Q000150:complications*