The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Nandaki Keshavan Jose AbdenurGlenn AndersonZahra AssoulineGiulia BarciaLamia BouhikbarAnupam ChakrapaniMaureen ClearyMarta C Cohen François Feillet Carl Fratter Natalie S HauserTom JacquesAmanda LamHelen McCullaghRahul PhadkeAgnès RötigMark SharrardMariella T SimonConrad SmithEwen W SommervilleRobert W TaylorWyatt W YueShamima Rahman

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Infantile-onset MDDS due to RRM2B deficiency is a severe disorder with characteristic clinical features and extremely poor prognosis. Presently management is supportive as there is no effective treatment. Novel treatments are urgently needed.

Keyphrases

poor prognosis
mitochondrial dna
copy number
long non coding rna
replacement therapy
case report
gene expression
dna methylation
combination therapy
drug induced