Novel Intronic Mutation in
VMA21
XMEA
autophagy
intron retention
intronic mutation
vacuolar myopathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
29 11 2022
29 11 2022
Historique:
received:
26
10
2022
revised:
18
11
2022
accepted:
26
11
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
X-linked Myopathy with Excessive Autophagy (XMEA) is a rare autophagic vacuolar myopathy caused by mutations in the Vacuolar ATPase assembly factor
Identifiants
pubmed: 36553512
pii: genes13122245
doi: 10.3390/genes13122245
pmc: PMC9777698
pii:
doi:
Substances chimiques
Vacuolar Proton-Translocating ATPases
EC 3.6.1.-
VMA21 protein, human
EC 3.6.1.-
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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