Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
Baxter, RV; Ben Othmane, K; Rochelle, JM; Stajich, JE; Hulette, C; Dew-Knight, S; Hentati, F; Ben Hamida, M; Bel, S; Stenger, JE; Gilbert, JR; Pericak-Vance, MA; Vance, JM
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