GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy
- 25 July 2006
- journal article
- clinical trial
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 67 (2), 273-279
- https://doi.org/10.1212/01.wnl.0000223832.66286.e4
Abstract
Background: Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin deposition in the brain. Mutations in the GJA12 gene, encoding connexin 47 (Cx47), were recently reported in five children with autosomal recessive PMLD.Keywords
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