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