Article
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
PloS one - 1 Jan 2016
Flønes Irene, Sztromwasser Paweł, Haugarvoll Kristoffer, Dölle Christian, Lykouri Maria, Schwarzlmüller Thomas, Jonassen Inge, Miletic Hrvoje, Johansson Stefan, Knappskog Per M, Bindoff Laurence A, Tzoulis Charalampos
Abstract excerpt
BACKGROUND: Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been reported. This makes the diagnosis uncertain and may delay treatment. METHODS AND RESULTS: In two siblings with...
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