Associated Papers
A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formation.
Murdock DG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C et al.
Journal of Medical Genetics, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
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
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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