Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
c.550delA mutation
calpainopathy
muscle histopathology
muscle magnetic resonance imaging
Journal
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
ISSN: 2532-1900
Titre abrégé: Acta Myol
Pays: Italy
ID NLM: 9811169
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
entrez:
3
12
2019
pubmed:
4
12
2019
medline:
17
4
2020
Statut:
epublish
Résumé
Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the
Substances chimiques
Muscle Proteins
0
CAPN3 protein, human
EC 3.4.22.-
Calpain
EC 3.4.22.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
163-171Informations de copyright
©2019 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.
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