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Article

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2025

Xu Fang, Huang Hongyan, Shen Qiuyan, Bao Yi, Zhang Dan, Liu Ling, Xu Yanming

Abstract excerpt

BACKGROUND: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival. OBJECTIVE: This case series aims to validate previous findings, expand the clinical phenotype, identify novel ATP7A mutations of MD...

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Source

Identifiers

PMID: 38969962
DOI: 10.1007/s10072-024-07676-5

Genes

ATP7A

Provenance

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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