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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Frontiers Media S.A. 2024-12-01
Rangatū:Frontiers in Genetics
Ngā marau:
calpain
calpainopathy
LGMD
LGMDR1
case report
Urunga tuihono:https://www.frontiersin.org/articles/10.3389/fgene.2024.1437859/full
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