P306: Neurodevelopmental testing in children with mitochondrial disease

Genetics in Medicine Open 2026 Open access

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Authors: Eliza M. Gordon‐Lipkin, Maegan Wood, Madeleine Hesselgesser, Cristan Farmer, Shannon Kruk, Peter McGuire, Audrey Thurm
DOI: 10.1016/j.gimo.2026.103800
Cited by: 0

Abstract

Mitochondrial diseases (MtD) are defined by deficits in the structure/function of mitochondria, frequently affecting the brain. Our aim was to quantify cognitive function in children with MtD and explore associations with genotype/phenotype including early neuroimaging, early milestones.

Fields of Study & Subjects

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Hereditary Neurological Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103800–103800
Publication date
1 January 2026
Language
EN