Case report: A single novel calpain 3 gene variant associated with mild myopathy

Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at th...

Полное описание

Библиографические подробности

Главные авторы:	Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Frontiers Media S.A. 2024-12-01
Серии:	Frontiers in Genetics
Предметы:	calpain calpainopathy LGMD LGMDR1 case report
Online-ссылка:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1437859/full
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