A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data

資料種別:
論文(リポジトリ)
責任表示:
Chinen, Yasutsugu ; Yanagi, Kumiko ; Nakamura, Sadao ; Nakayama, Noriko ; Kamiya, Motoko ; Nakayashiro, Mami ; Kaname, Tadashi ; Naritomi, Kenji ; Nakanishi, Koichi
言語:
英語
出版情報:
Springer Nature, 2020-04-16
著者名:
Chinen, Yasutsugu
Yanagi, Kumiko
Nakamura, Sadao
Nakayama, Noriko
Kamiya, Motoko
Nakayashiro, Mami
Kaname, Tadashi
Naritomi, Kenji
Nakanishi, Koichi
続きを見る
掲載情報:
Human Genome Variation
ISSN:
2054-345X  CiNii Articles  Webcat Plus  JAIRO
巻:
7
バージョン:
publisher
概要:
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. 続きを見る
URL:
http://hdl.handle.net/20.500.12000/47023
eリソース
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