Moderate multi-minicore disease with hand involvement (Q104021): Difference between revisions

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Latest revision as of 09:50, 17 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1297824145
English	Moderate multi-minicore disease with hand involvement	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.