MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

doi:10.1016/j.ajhg.2016.09.021

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Article

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

American journal of human genetics - 1 Dec 2016

Heimer Gali, Kerätär Juha M, Riley Lisa G, Balasubramaniam Shanti, Eyal Eran, Pietikäinen Laura P, Hiltunen J Kalervo, Marek-Yagel Dina, Hamada Jeffrey, Gregory Allison, Rogers Caleb, Hogarth Penelope, Nance Martha A, Shalva Nechama, Veber Alvit, Tzadok Michal, Nissenkorn Andreea, Tonduti Davide, Renaldo Florence, Kraoua Ichraf, Panteghini Celeste, Valletta Lorella, Garavaglia Barbara, Cowley Mark J, Gayevskiy Velimir, Roscioli Tony, Silberstein Jonathon M, Hoffmann Chen, Raas-Rothschild Annick, Tiranti Valeria, Anikster Yair, Christodoulou John, Kastaniotis Alexander J, Ben-Zeev Bruria, Hayflick Susan J

Abstract excerpt

Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. All...

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Identifiers

PMID: 27817865
DOI: 10.1016/j.ajhg.2016.09.021
PMCID: PMC5142118

Genes

MECR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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