Associated Papers
A systematic review on the biochemical threshold of mitochondrial genetic variants.
Smith KK et al.
Genome Research, 2024
Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report.
Xu Q et al.
Frontiers in Medicine, 2022
Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing.
Sun CB et al.
Frontiers in Neurology, 2021
Mitochondrial DNA 13513G>A mutation presenting with Leber's hereditary optic neuropathy.
Chen BS et al.
Clinical & Experimental Ophthalmology, 2019
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.
Tang S et al.
Human Mutation, 2013
Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review.
Hsieh YT et al.
Ophthalmic Genetics, 2011
A MELAS syndrome family harboring two mutations in mitochondrial genome.
Choi BO et al.
Experimental & Molecular Medicine, 2008
Pathogenic mitochondrial DNA mutations in protein-coding genes.
Wong LJ
Muscle & Nerve, 2007
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.
Qu J et al.
Biochemical and Biophysical Research Communications, 2005
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