Associated Papers
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A et al.
Neurology. Genetics, 2019
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
Lam C et al.
Molecular Genetics and Metabolism Reports, 2014
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Arif B et al.
Jama Neurology, 2013
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