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Article

Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.

Journal of Korean medical science - 1 Jul 2011

Kim Yong Hyuk, Lee Ran, Yoo Han Wook, Yum Mi-Sun, Bae Sun Hwan, Chung So Chung, Park Yong Mean, Son Jae Sung

Abstract excerpt

Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric...

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Identifiers

PMID: 21738351
DOI: 10.3346/jkms.2011.26.7.951
PMCID: PMC3124728

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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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