Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation

OBJECTIVE: To describe the clinical and molecular genetic findings in a family segregating a novel mutation in the AIFM1 gene on the X chromosome. METHODS: We studied the clinical features and performed brain MRI scans, nerve conduction studies, audiometry, cognitive testing, and clinical exome sequ...

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Detalles Bibliográficos
Autores principales: Pandolfo, Massimo, Rai, Myriam, Remiche, Gauthier, Desmyter, Laurence, Vandernoot, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164969/
https://www.ncbi.nlm.nih.gov/pubmed/32337346
http://dx.doi.org/10.1212/NXG.0000000000000420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164969/
https://www.ncbi.nlm.nih.gov/pubmed/32337346
http://dx.doi.org/10.1212/NXG.0000000000000420

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