Article
MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Aug 2023
Samanta Arghya, Srivastava Anshu, Mandal Kausik, Sarma Moinak Sen, Poddar Ujjal
Abstract excerpt
MPV17 is a mitochondrial inner membrane protein, involved in transporting deoxynucleotides into the mitochondria. Pathogenic MPV17 mutations can cause mitochondrial deoxyribonucleic acid (DNA) depletion syndrome, which has a varied presentation with neurological, muscular and hepatic involvement. Presentation as liver failure is relatively uncommon. Here, we report four infants from four separate families with...
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