Article
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Human mutation - 1 Apr 2018
El-Hattab Ayman W, Wang Julia, Dai Hongzheng, Almannai Mohammed, Staufner Christian, Alfadhel Majid, Gambello Michael J, Prasun Pankaj, Raza Saleem, Lyons Hernando J, Afqi Manal, Saleh Mohammed A M, Faqeih Eissa A, Alzaidan Hamad I, Alshenqiti Abduljabbar, Flore Leigh Anne, Hertecant Jozef, Sacharow Stephanie, Barbouth Deborah S, Murayama Kei, Shah Amit A, Lin Henry C, Wong Lee-Jun C
Abstract excerpt
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause...
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