Catalog

Congenital multi-minicore disease with external ophthalmoplegia

No MMS code

Link to WHO Definition

Congenital multi-minicore disease with external ophthalmoplegia – http://id.who.int/icd/entity/1706863538

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.