Associated Papers
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Heath O et al.
Molecular Genetics and Metabolism, 2026
CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.
Mróz D et al.
Journal of Inherited Metabolic Disease, 2025
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB et al.
American Journal of Human Genetics, 2015
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