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Article

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

American journal of human genetics - 2 Nov 2012

Indrieri Alessia, van Rahden Vanessa Alexandra, Tiranti Valeria, Morleo Manuela, Iaconis Daniela, Tammaro Roberta, D'Amato Ilaria, Conte Ivan, Maystadt Isabelle, Demuth Stephanie, Zvulunov Alex, Kutsche Kerstin, Zeviani Massimo, Franco Brunella

Abstract excerpt

Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC). Unlike other mitochondrial diseases, MLS is characterized by a well-recognizable neurodevelopmental phenotype. Interestingly, not all clinically diagnosed MLS cases have mutations...

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Identifiers

PMID: 23122588
DOI: 10.1016/j.ajhg.2012.09.016
PMCID: PMC3487127

Genes

HCCS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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