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A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.

Annals of clinical and laboratory science - 1 Jan 2009

Park Hyung-Doo, Moon Han-Ku, Lee Jihoon, Lee Munhyang, Lee Soo-Youn, Kim Jong-Won, Ki Chang-Seok

Abstract excerpt

Menkes disease (MD, MIM 309400) is a fatal X-linked recessive disorder that is caused by mutations in the gene encoding ATP7A, a copper-transporting, P-type ATPase. Patients with MD are characterized by progressive hypotonia, seizures, failure to thrive, and death in early childhood. Two Korean patients were diagnosed with Menkes disease by clinical and biochemical findings. We found one missense mutation and one...

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PMID: 19429807

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