Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation (Q86063): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Canary Token | |||
dki-india-ID_1187309098 | |||
| Property / Canary Token: dki-india-ID_1187309098 / rank | |||
Normal rank | |||
Revision as of 11:25, 15 August 2026
Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterised by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1187309098 |
||
| English | Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation |
Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterised by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle. |
Statements
CID11:ID_1187309098
0 references
dki-india-ID_1187309098
0 references
