Associated Papers
Recurrent MECR R258W causes adult-onset optic atrophy: A case report.
Jia N et al.
European Journal of Medical Genetics, 2024
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C et al.
Journal of Medical Genetics, 2023
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Liu Z et al.
Mitochondrion, 2021
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G et al.
American Journal of Human Genetics, 2016
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