Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.

Federica InvernizziAndrea LegatiAlessia NascaEleonora LamanteaBarbara GaravagliaMirjana GusicRobert KopajtichHolger ProkischMassimo ZevianiCostanza LampertiDaniele Ghezzi

Published in: Brain : a journal of neurology (2021)

Keyphrases

mitochondrial dna
copy number
genome wide
intellectual disability
dna methylation
case report
autism spectrum disorder