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BackgroundSLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early‐onset dystonia, paraparesis, or late‐onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far.
MethodsMethods for this study consisted of clinical examination, neuroimaging studies...
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