Long standing follow-up of this AHC patient with cerebellar atrophy• ATP1A3 gene mutation was associated with metabolic energy failure.• Brain spectroscopy and muscle biopsy were used to characterize metabolic pathways.
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities
Angelini C.
Membro del Collaboration Group
2017
Abstract
Long standing follow-up of this AHC patient with cerebellar atrophy• ATP1A3 gene mutation was associated with metabolic energy failure.• Brain spectroscopy and muscle biopsy were used to characterize metabolic pathways.
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