Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

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 d...

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Detalles Bibliográficos
Autores principales: Kim, Yong Hyuk, Lee, Ran, Yoo, Han Wook, Yum, Mi-Sun, Bae, Sun Hwan, Chung, So Chung, Park, Yong Mean, Son, Jae Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124728/
https://www.ncbi.nlm.nih.gov/pubmed/21738351
http://dx.doi.org/10.3346/jkms.2011.26.7.951

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124728/
https://www.ncbi.nlm.nih.gov/pubmed/21738351
http://dx.doi.org/10.3346/jkms.2011.26.7.951

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