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A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family

BACKGROUND: Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. METHODS: Clinical manifestations were collected and observed through medical records, physical examination, laboratory tests, and magnetic resonance imaging (MRI). Gener...

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Detalles Bibliográficos
Autores principales: Wang, Chao, Liu, Hongchao, Han, Bing, Zhu, Hui, Liu, Jingyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790300/
https://www.ncbi.nlm.nih.gov/pubmed/31557422
http://dx.doi.org/10.1002/brb3.1416