Truncating Variant in
cardiomyopathy
haploinsufficiency
muscular dystrophy
myoferlin
zebrafish
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
26
11
2018
accepted:
11
06
2019
entrez:
13
7
2019
pubmed:
13
7
2019
medline:
13
7
2019
Statut:
epublish
Résumé
Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as cardiomyopathies and inherited arrhythmic syndromes, the genetic cause of a proportion of cardiomyopathies associated with neuromuscular phenotype still remains unknown. Here, we present an individual with a combination of cardiomyopathy and limb-girdle type muscular dystrophy where whole exome sequencing identified myoferlin (
Identifiants
pubmed: 31297131
doi: 10.3389/fgene.2019.00608
pmc: PMC6607695
doi:
Types de publication
Journal Article
Langues
eng
Pagination
608Références
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