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-associated congenital neutropenia: A rare case report and literature review.
Sun Y et al.
Medicine, 2026
CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.
Mróz D et al.
Journal of Inherited Metabolic Disease, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB.
D'Angelo D et al.
Nature Communications, 2025
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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