Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease.
carnitine palmitoyltransferase II deficiency
family study
mutation
pedigree
underdiagnosis
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:
05
03
2019
accepted:
06
05
2019
entrez:
14
6
2019
pubmed:
14
6
2019
medline:
14
6
2019
Statut:
epublish
Résumé
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in most cases caused by a c.338C > T mutation in the
Identifiants
pubmed: 31191612
doi: 10.3389/fgene.2019.00497
pmc: PMC6540962
doi:
Types de publication
Journal Article
Langues
eng
Pagination
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