Multi-minicore disease (Q90786)
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Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterised by multiple cores on muscle biopsy and clinical features of a congenital myopathy with important clinical variability that corresponds to genetic heterogeneity: from spinal rigidity, early scoliosis and respiratory impairment, to a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_880281117 |
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| English | Multi-minicore disease |
Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterised by multiple cores on muscle biopsy and clinical features of a congenital myopathy with important clinical variability that corresponds to genetic heterogeneity: from spinal rigidity, early scoliosis and respiratory impairment, to a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). |
