Congenital muscular dystrophy with integrin deficiency (Q103693): Difference between revisions
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A distrofia muscular congênita com deficiência de integrina é um distúrbio muscular caracterizado por miopatia congênita e atrasos nos marcos motores. É causada por mutações no gene integrina alfa7 (ITGA7), que codifica um importante receptor de laminina no músculo. | |||
| description / en | description / en | ||
Congenital muscular dystrophy with integrin deficiency is a muscle disorder characterised by congenital myopathy and delayed motor milestones. It is caused by mutations of the integrin alpha7 gene (ITGA7), which codes for an important laminin receptor in muscle. | |||
Revision as of 09:27, 17 August 2026
Congenital muscular dystrophy with integrin deficiency is a muscle disorder characterised by congenital myopathy and delayed motor milestones. It is caused by mutations of the integrin alpha7 gene (ITGA7), which codes for an important laminin receptor in muscle.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_535444201 |
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| English | Congenital muscular dystrophy with integrin deficiency |
Congenital muscular dystrophy with integrin deficiency is a muscle disorder characterised by congenital myopathy and delayed motor milestones. It is caused by mutations of the integrin alpha7 gene (ITGA7), which codes for an important laminin receptor in muscle. |
