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List of references:
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
M Bugiani, S Al Shahwan, E Lamantea, A Bizzi, E Bakhsh, I Moroni, M R Balestrini, G Uziel, M Zeviani,
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.
Neurology - Jul 2006