A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosomal dominant form of LGMD (OMIM 618129) caused by c....
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Research Center of Neurology
2021-10-01
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| coleção: | Анналы клинической и экспериментальной неврологии |
| Assuntos: | |
| Acesso em linha: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/762/592 |
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