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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |