Ontology highlight
ABSTRACT:
SUBMITTER: Kishita Y
PROVIDER: S-EPMC7549589 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Kishita Yoshihito Y Shimura Masaru M Kohda Masakazu M Akita Masumi M Imai-Okazaki Atsuko A Yatsuka Yukiko Y Nakajima Yoko Y Ito Tetsuya T Ohtake Akira A Murayama Kei K Okazaki Yasushi Y
Molecular genetics & genomic medicine 20200804 10
<h4>Background</h4>Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number. Most MTDPS is caused by mutations in genes that disrupt deoxyribonucleotide metabolism.<h4>Methods</h4>We performed the whole-exome sequencing of a hepato-encephalopathy patient with MTDPS and functional analyses to determine the clinical significance of the identified variant.<h4>Results</h4>Here, whole-exome sequencing of a ...[more]