Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

BACKGROUND: As a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN. METHODS: We applied clinical evaluation, laboratory tests, and neuroimaging on three patients...

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Detalles Bibliográficos
Autores principales: He, Raoli, Zhang, Jian, Huang, Tianwen, Cai, Guoen, Zou, Zhangyu, Ye, Qinyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011709/
https://www.ncbi.nlm.nih.gov/pubmed/36925939
http://dx.doi.org/10.3389/fneur.2023.1126729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011709/
https://www.ncbi.nlm.nih.gov/pubmed/36925939
http://dx.doi.org/10.3389/fneur.2023.1126729

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