Limb-girdle myasthenia, familial (Q92780): Difference between revisions
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A miastenia familiar de cinturas se manifesta em várias idades (do nascimento até a 3ª década). Há fraqueza da face, de músculos proximais e axiais, de músculos respiratórios e ptose. Musculatura proximal é mais envolvida do que a distal. Mutações em GFPT1, DPAGT1, ALG2, ALG14 e DOK-7 dão origem a este fenótipo. | |||
| description / en | description / en | ||
Familial limb-girdle myasthenia becomes manifest at various ages (birth to 3rd decade). There is weakness of the face, ptosis, proximal and axial muscles, respiratory muscles. Proximal more than distal. Mutations in GFPT1, DPAGT1, ALG2, ALG14 and DOK-7 give rise to this phenotype. | |||
Revision as of 07:54, 16 August 2026
Familial limb-girdle myasthenia becomes manifest at various ages (birth to 3rd decade). There is weakness of the face, ptosis, proximal and axial muscles, respiratory muscles. Proximal more than distal. Mutations in GFPT1, DPAGT1, ALG2, ALG14 and DOK-7 give rise to this phenotype.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_632700589 |
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| English | Limb-girdle myasthenia, familial |
Familial limb-girdle myasthenia becomes manifest at various ages (birth to 3rd decade). There is weakness of the face, ptosis, proximal and axial muscles, respiratory muscles. Proximal more than distal. Mutations in GFPT1, DPAGT1, ALG2, ALG14 and DOK-7 give rise to this phenotype. |
