Limb-girdle myasthenia, familial (Q92780)
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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 |
||
| 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. |
Statements
CID11:ID_632700589
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