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Myriam Rai on Muck Rack

Myriam Rai

As seen in: Neurology
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Articles

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

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By Massimo Pandolfo, Hôpital Erasme, Myriam Rai, Gauthier Remiche
| Neurology Verified
Abstract 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 sequencing (CES) in the proband, his mother, and maternal uncle.
Open in Who Shared Issue with article?
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By Ralf-Dieter Hilgers, Kathrin Reetz, Imis Dogan, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Ludger Schöls, Thomas Klockgether, Katrin Bürk, Myriam Rai, Massimo Pandolfo, Jörg B Sc
| secure.jbs.elsevierhealth.com
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