Article
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Annals of neurology - 1 Mar 2003
Boerkoel Cornelius F, Takashima Hiroshi, Nakagawa Masanori, Izumo Shuji, Armstrong Dawna, Butler Ian, Mancias Pedro, Papasozomenos Sozos C H, Stern Lawrence Z, Lupski James R
Abstract excerpt
Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the same haplotype suggesting a Spanish founder mutation. Both the Q163X and the R120Q mutation...
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