Novel ATP7A gene mutation in a patient with Menkes disease

BACKGROUND: Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities. CASE PRESENTATION: We describe an infant with developmental delay,...

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Detalles Bibliográficos
Autores principales: Caicedo-Herrera, Gabriela, Candelo, Estephania, Pinilla, Juan, Vidal, Andrés, Cruz, Santiago, Pachajoa, Harry Mauricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254535/
https://www.ncbi.nlm.nih.gov/pubmed/30538525
http://dx.doi.org/10.2147/TACG.S180087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254535/
https://www.ncbi.nlm.nih.gov/pubmed/30538525
http://dx.doi.org/10.2147/TACG.S180087

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