Preferred Label : Limb-girdle myasthenia, familial;
ICD-11 definition : 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.;
Origin ID : 632700589;
Automatic exact mappings (from CISMeF team)
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.
