Multi-minicore disease (Q90786): Difference between revisions

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Latest revision as of 17:46, 15 August 2026

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
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).