Congenital myasthenic syndrome with glycosylation deficiency (Q92753): Difference between revisions
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As síndromes miastênicas congênitas com deficiência de glicosilação incluem defeitos nos seguintes genes: GFPT1, DPAGT1, ALG2 e ALG14. Mutações de perda de função desses genes combinam um padrão de cintura de miastenia autossômica recessiva e agregados tubulares em biópsias musculares. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
