Article
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Neurogenetics - 1 Sept 2005
Chung K W, Sunwoo I N, Kim S M, Park K D, Kim W-K, Kim T S, Koo H, Cho M, Lee J, Choi B O
Abstract excerpt
During mutational analysis of Charcot-Marie-Tooth (CMT) causative genes, we identified a CMT family with two missense mutations in different genes. A R359W mutation in EGR2 was shared by the affected daughter (proband) and her father. In addition, she had a V136A mutation in GJB1, which was determined to be a de novo mutation. The daughter with two different gene mutations showed more severe clinical,...
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