Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
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DOI: 10.1186/s13023-018-0825-3
Abstract: BackgroundATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations.MethodsAn observational study was… read more here.
Keywords: hypotonia; optic atrophy; severe hypotonia; atrophy ... See more keywords