A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

Abstract Background 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. Methods We performed the whole‐exome se...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Format:	Article
Language:	English
Published:	Wiley 2020-10-01
Subjects:	cristae MICOS complex mitochondrial disease mitochondrial DNA depletion syndrome
Online Access:	https://doi.org/10.1002/mgg3.1427