Congenital multi-minicore disease with external ophthalmoplegia (Q104026): Difference between revisions
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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 |
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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. |
Statements
CID11:ID_1706863538
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