Article
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2015
Quadri Marialuisa, Kamate Mahesh, Sharma Suvasini, Olgiati Simone, Graafland Josja, Breedveld Guido J, Kori Indu, Hattiholi Virupaxi, Jain Puneet, Aneja Satinder, Kumar Atin, Gulati Parveen, Goel Medha, Talukdar Bibek, Bonifati Vincenzo
Abstract excerpt
BACKGROUND: SLC30A10 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. METHODS: Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum...
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