Moderate multi-minicore disease with hand involvement (Q104021)

Congenital myopathy characterised by the presence in most muscle fibres of multiple minicores, which are poorly circumscribed, segmentary lesions spreading only a few sarcomeres along the fibre longitudinal axis and affecting both type 1 and type 2 fibres. The moderate form with hand involvement consists of generalised muscle weakness predominating in the pelvic girdle and including hand weakness, amyotrophy, and hyperlaxity; scoliosis and respiratory involvement are mild or absent.