Congenital myasthenic syndrome with glycosylation deficiency (Q92753)
From determinar.ia.br - Determine suas informações
Congenital myasthenic syndromes with glycosylation deficiency include GFPT1 defect, DPAGT1 defect, ALG2 defect, and ALG14 defect. Loss-of-function mutations of these genes combine a limb–girdle pattern of autosomal recessively inherited myasthenia and tubular aggregates on muscle biopsies.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1600121647 |
||
| English | Congenital myasthenic syndrome with glycosylation deficiency |
Congenital myasthenic syndromes with glycosylation deficiency include GFPT1 defect, DPAGT1 defect, ALG2 defect, and ALG14 defect. Loss-of-function mutations of these genes combine a limb–girdle pattern of autosomal recessively inherited myasthenia and tubular aggregates on muscle biopsies. |
Statements
CID11:ID_1600121647
0 references
