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Article

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

Journal of medical genetics - 1 May 2015

Capo-Chichi José-Mario, Boissel Sarah, Brustein Edna, Pickles Sarah, Fallet-Bianco Catherine, Nassif Christina, Patry Lysanne, Dobrzeniecka Sylvia, Liao Meijiang, Labuda Damian, Samuels Mark E, Hamdan Fadi F, Vande Velde Christine, Rouleau Guy A, Drapeau Pierre, Michaud Jacques L

Abstract excerpt

BACKGROUND: The heterogeneous group of 3-methylglutaconic aciduria disorders includes several inborn errors of metabolism that affect mitochondrial function through poorly understood mechanisms. We describe four newborn siblings, from a consanguineous family, who showed microcephaly, small birth weight, severe encephalopathy and 3-methylglutaconic aciduria. Their neurological examination was characterised by...

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Identifiers

PMID: 25650066
DOI: 10.1136/jmedgenet-2014-102952

Genes

CLPB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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