Limb-girdle myasthenia, familial (Q92780): Difference between revisions

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Latest 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
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.