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Title :A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data
Authors :Chinen, Yasutsugu
Yanagi, Kumiko
Nakamura, Sadao
Nakayama, Noriko
Kamiya, Motoko
Nakayashiro, Mami
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
Issue Date :16-Apr-2020
Abstract :Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.
URL :https://doi.org/10.1038/s41439-020-0098-y
Type Local :雑誌掲載論文
ISSN :2054-345X
Publisher :Springer Nature
URI :http://hdl.handle.net/20.500.12000/47023
Citation :Human Genome Variation Vol.7
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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