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Article

Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.

European journal of human genetics : EJHG - 1 Jul 2026

D'Alessio Alfonso Manuel, Indrieri Alessia, Vitiello Giuseppina, Morleo Manuela, Schelley Susan, Enns Gregory M, Passarelli Chiara, Tammaro Roberta, Tiranti Valeria, Peron Camille, Deb Wallid, Novelli Antonio, Isidor Bertrand, Iolascon Achille, Franco Brunella

Abstract excerpt

Mitochondrial disorders (MDs) are a diverse group of genetic conditions primarily affecting the oxidative phosphorylation (OXPHOS) system and cellular energy production. Among MDs, Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), or Microphthalmia with Linear Skin Lesions (MLS) syndrome, is a rare X-linked dominant male-lethal disorder characterized by ocular malformations, linear skin defects,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42014911
DOI: 10.1038/s41431-026-02098-7
PMCID: PMC13342626

Genes

COX7B
HCCS
NDUFB11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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