Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirme...

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Detalles Bibliográficos
Autores principales: PERIC, STOJAN, STEVANOVIC, JELENA, JOHNSON, KATHERINE, KOSAC, ANA, PERIC, MARINA, BRANKOVIC, MARIJA, MARJANOVIC, ANA, JANKOVIC, MILENA, BANKO, BOJAN, MILENKOVIC, SANJA, DURDIC, MILICA, BOZOVIC, IVO, GLUMAC, JELENA NIKODINOVIC, LAVRNIC, DRAGANA, MAKSIMOVIC, RUZICA, MILIC-RASIC, VEDRANA, RAKOCEVIC-STOJANOVIC, VIDOSAVA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859413/
https://www.ncbi.nlm.nih.gov/pubmed/31788660

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