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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Hlavní autoři:	Inna V. Sharkova, Maria V. Bulakh, Liudmila А. Bessonova, Olga A. Shchagina, Elena L. Dadaly
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Research Center of Neurology 2021-10-01
Edice:	Анналы клинической и экспериментальной неврологии
Témata:	limb-girdle muscular dystrophy autosomal recessive lgmd calpainopathy calpain-3-related muscular dystrophy capn3 gene pseudodominant inheritance case report
On-line přístup:	https://annaly-nevrologii.com/journal/pathID/article/viewFile/762/592
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