Open AccessIdentification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
Author(s) -
Hyun Dae Hong,
Eunja Kim,
Soo Hyun Nam,
Da Hye Yoo,
Bum Chun Suh,
ByungOk Choi,
Ki Wha Chung
Publication year - 2015
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2015.12.2.109
Subject(s) - mitochondrial dna , myoclonic epilepsy , leigh disease , mitochondrial disease , dna sequencing , genetics , biology , mutation , gene , epilepsy , neuroscience
in the mitochondrial DNA (mtDNA) that lead to oxidative phosphorylation impairment, ATP depletion, cellular dysfunction, and ultimately cell death [1]. Most mitochondrial diseases involve impairment of multiple organs, particularly in tissues with a high energy demand such as nerve and muscle. Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing
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