Associated Papers
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
Kuipers DJS et al.
Parkinsonism & Related Disorders, 2019
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E et al.
Molecular Genetics and Metabolism, 2011
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Orthmann-Murphy JL et al.
Brain : a Journal of Neurology, 2009
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