Congenital myasthenic syndrome with glycosylation deficiency (Q92753): Difference between revisions
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Revision as of 07:52, 16 August 2026
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 |
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| default for all languages | ID_1600121647 |
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| 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. |
