Congenital multi-minicore disease with external ophthalmoplegia (Q104026): Difference between revisions
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Transtorno neuromuscular hereditário definido por múltiplas áreas com redução da atividade oxidativa ao longo de uma extensão limitada do eixo longitudinal da fibra muscular (“minicores”) e características clínicas de miopatia congênita. A distribuição de fraqueza e emaciação é semelhante ao fenótipo clássico, com envolvimento muscular extra-ocular adicional. | |||
| description / en | description / en | ||
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. | |||
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. |
