Article
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Neurology - 4 Mar 2008
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina A P, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J
Abstract excerpt
BACKGROUND: Pelizaeus-Merzbacher-like disease (PMLD) is a genetically heterogeneous disorder within the group of hypomyelinating leukoencephalopathies. Mutations of the gap junction protein alpha 12 (GJA12) gene are known to cause one autosomal recessive PMLD form. Few patients with GJA12 mutated PMLD have been reported, and to date, the frequency as well as the genotypic and phenotypic spectrum of GJA12 related...
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