Congenital multi-minicore disease with external ophthalmoplegia (Q104026): Difference between revisions

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Latest revision as of 09:51, 17 August 2026

Inherited neuromuscular disorder defined by multiple areas with reduced oxidative activity running along an only limited extent of the longitudinal axis of the muscle fibre (“minicores”) and clinical features of a congenital myopathy. The distribution of weakness and wasting is similar to the classic phenotype with additional extra-ocular muscle involvement.

Language	Label	Description	Also known as
default for all languages	ID_1706863538
English	Congenital multi-minicore disease with external ophthalmoplegia	Inherited neuromuscular disorder defined by multiple areas with reduced oxidative activity running along an only limited extent of the longitudinal axis of the muscle fibre (“minicores”) and clinical features of a congenital myopathy. The distribution of weakness and wasting is similar to the classic phenotype with additional extra-ocular muscle involvement.