Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
|
| Materias: | |
| 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 |