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Article

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

Biochimie - 1 Oct 2009

Møller Lisbeth Birk, Mogensen Mie, Horn Nina

Abstract excerpt

Menkes syndrome is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene, encoding a copper-transporting P1B-type ATPase. To date, a total of approximately 160 different mutations have been reported worldwide. The clinical phenotypes observed in these patients include progressive neuro-degeneration, connective-tissue abnormalities and peculiar hair. There is...

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PMID: 19501626
DOI: 10.1016/j.biochi.2009.05.011

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

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