@article{oai:u-ryukyu.repo.nii.ac.jp:02011168,
 author = {Chinen, Yasutsugu and Yanagi, Kumiko and Nakamura, Sadao and Nakayama, Noriko and Kamiya, Motoko and Nakayashiro, Mami and Kaname, Tadashi and Naritomi, Kenji and Nakanishi, Koichi},
 journal = {Human Genome Variation},
 month = {Apr},
 note = {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., 論文},
 title = {A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data},
 volume = {7},
 year = {2020}
}