Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles. LGMD2A/R1, which is caused by variants in calcium-activated neutral prote...
Guardat en:
| Autors principals: | , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2024-08-01
|
| Col·lecció: | Frontiers in Genetics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1410727/full |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|