Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation (Q86063): Difference between revisions
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Distrofia muscular de cinturas-2M (LGMD2M) é causada por uma mutação de sentido incorreto homozigótica POMGnT1. É caracterizada por início na segunda década, miopia severa, intelecto normal e diminuição da imunomarcação de alfa-distroglicano no músculo esquelético. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
