Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Abstract Objective We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially...

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Bibliographic Details
Main Authors: Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51074

Internet

https://doi.org/10.1002/acn3.51074

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