Article
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Neuromuscular disorders : NMD - 1 Nov 2005
Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, Seeman P
Abstract excerpt
Mutations in the early growth response 2 gene (EGR2) cause demyelinating neuropathies differing in severity and age of onset. We tested 46 unrelated Czech patients with dominant or sporadic demyelinating CMT neuropathy for mutations in the EGR2 gene. One novel de-novo mutation (Arg359Gln, R359Q) was identified in heterozygous state in a patient with a typical CMT1 phenotype, progressive moderate thoracolumbar...
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