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....
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Research Center of Neurology
2021-10-01
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| Series: | Анналы клинической и экспериментальной неврологии |
| Subjects: | |
| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/762/592 |