From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

doi:10.1016/j.ymgme.2026.109752

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Article

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Molecular genetics and metabolism - 1 Apr 2026

Heath Oliver, Del Caño-Ochoa Francisco, Baris Safa, Carrozzo Rosalba, Coman David, Distelmaier Felix, Ellaway Carolyn, Feichtinger Rene G, Finocchi Andrea, Guerrero-Castillo Sergio, Halligan Rebecca, Hannibal Iris, Kritzer Amy, Lichter-Konecki Uta, Merkevicius Kajus, Panis Bianca, Pitceathly Robert D S, Pizzamiglio Chiara, Iwanicka-Pronicka Katarzyna, Rahman Shamima, Seltzer Laurie, Siepermann Meinolf, Tal Galit, Wevers Ron A, Ziętkiewicz Szymon, Ramón-Maiques Santiago, Mayr Johannes A, Wortmann Saskia B

Abstract excerpt

BACKGROUND: CLPB-related mitochondrial disease causes congenital neutropenia, developmental delay/intellectual disability, progressive brain atrophy, movement disorders, cataracts, and 3-methylglutaconic aciduria. Both monoallelic and biallelic forms exist. This retrospective cohort study compared clinical outcomes and genotype-structure-phenotype correlations across zygosity groups. METHODS: Sixty-three...

Topics

Humans
Child, Preschool
Female
Mitochondrial Diseases
Infant
Child
Male
Endopeptidase Clp

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Neutropenia

Mutation

Retrospective Studies

Genetic Association Studies

Alleles

Adolescent

Cataract

Phenotype

Metabolism, Inborn Errors

Source

Open in PubMed

Identifiers

PMID: 41719910
DOI: 10.1016/j.ymgme.2026.109752

Genes

CLPB
DBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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