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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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| Yayımlandı: | Neurol Genet |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wolters Kluwer
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7164969/ https://ncbi.nlm.nih.gov/pubmed/32337346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000420 |
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