ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness and spasticity, and may develop signs and sympt...

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Detalles Bibliográficos
Autores principales: Volmrich, Alyssa M, Cuénant, Lauren M, Forghani, Irman, Hsieh, Sharon L, Shapiro, Lauren T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381027/
https://www.ncbi.nlm.nih.gov/pubmed/35983253
http://dx.doi.org/10.2147/TACG.S359479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381027/
https://www.ncbi.nlm.nih.gov/pubmed/35983253
http://dx.doi.org/10.2147/TACG.S359479

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