Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Genetic diagnosis
Genetics
Inherited myopathy
Limb-girdle muscular dystrophy
Whole exome sequencing
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
13
09
2020
revised:
13
11
2020
accepted:
13
11
2020
entrez:
11
12
2020
pubmed:
12
12
2020
medline:
12
12
2020
Statut:
epublish
Résumé
Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation and laboratory and electrophysiological findings and absence of known acquired causes of myopathy. Of these, 16 patients (8 females, median 24 years-old, range 7 to 67 years-old) were diagnosed by Whole Exome Sequencing as suffering from a specific type of inherited muscle disorder. Specifically, we have identified causative variants in 6 limb-girdle muscular dystrophy genes (6 patients;
Identifiants
pubmed: 33304817
doi: 10.1016/j.ymgmr.2020.100682
pii: S2214-4269(20)30128-2
pmc: PMC7711282
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100682Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
None.
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