Congenital multi-minicore disease with external ophthalmoplegia (Q104026)
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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 |
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| 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. |
