SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy
| Autor: | Niccolo E. Mencacci, Bettina Balint, Lucinda Carr, Nicholas W. Wood, Gavin Charlesworth, Kailash P. Bhatia |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Ataxia business.industry Consanguinity Phosphate Transporters medicine.disease Myoclonic Cerebellar Dyssynergia Clinical neurology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Atrophy Neurology Medicine Neurology (clinical) medicine.symptom business Mitochondrial protein Neuroscience Optic nerve diseases 030217 neurology & neurosurgery |
| Zdroj: | Movement Disorders. 31:1249-1251 |
| ISSN: | 1531-8257 0885-3185 |
| Databáze: | OpenAIRE |
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