A novel
Cardiomyopathy
Lipid metabolism
Neutral lipid storage disease with myopathy
PNPLA2
Splicing mutation
Triglyceride lipase
Journal
Genes & diseases
ISSN: 2352-3042
Titre abrégé: Genes Dis
Pays: Netherlands
ID NLM: 101635967
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
20
06
2019
revised:
12
07
2019
accepted:
22
07
2019
entrez:
11
2
2021
pubmed:
29
7
2019
medline:
29
7
2019
Statut:
epublish
Résumé
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder, due to an enzymatic error of lipid metabolism. Patients present always with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM is caused by mutations in the
Identifiants
pubmed: 33569515
doi: 10.1016/j.gendis.2019.07.006
pii: S2352-3042(19)30050-9
pmc: PMC7859421
doi:
Types de publication
Journal Article
Langues
eng
Pagination
73-78Informations de copyright
© 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.
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