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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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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 |