Article
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Brain : a journal of neurology - 1 Jul 2014
Hamilton Eline M, Polder Emiel, Vanderver Adeline, Naidu Sakkubai, Schiffmann Raphael, Fisher Kate, Raguž Ana Boban, Blumkin Luba, van Berkel Carola G M, Waisfisz Quinten, Simons Cas, Taft Ryan J, Abbink Truus E M, Wolf Nicole I, van der Knaap Marjo S
Abstract excerpt
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes tubulin β-4A. We investigated the mutation spectrum in a cohort of 42 patients and the relationship between genotype...
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