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

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 associa...

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Publicado en:Ann Clin Transl Neurol
Autores principales: Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7318087/
https://ncbi.nlm.nih.gov/pubmed/32519519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51074
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