Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms—a case report

Menkes disease (MD) is a rare congenital copper deficiency disease caused by an adenosine triphosphatase copper transporting alpha (ATP7A) gene mutation. It is a progressive and systemic disease that primarily involves the central nervous system and connective tissues. The clinical manifestation of...

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Detalles Bibliográficos
Autores principales: Li, Jinrong, Hu, Ruolan, Wang, Jialing, Yu, Ruixin, Xiong, Fei, Jiang, Mingyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349949/
https://www.ncbi.nlm.nih.gov/pubmed/34430447
http://dx.doi.org/10.21037/tp-21-275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349949/
https://www.ncbi.nlm.nih.gov/pubmed/34430447
http://dx.doi.org/10.21037/tp-21-275

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