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
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Pronicka E et al.
Journal of Inherited Metabolic Disease, 2017
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Capo-Chichi JM et al.
Journal of Medical Genetics, 2015
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