Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy

Abstract excerpt

X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) is a demyelinating neuropathy resulting from loss-of-function mutations affecting the GJB1 /connexin 32 (Cx32) gene. We previously showed functional and morphological improvement in Gjb1 -null mice following AAV9-mediated delivery of human Cx32 driven by the myelin protein zero (Mpz) promoter in Schwann cells. However, CMT1X mutants may interfere with virally...

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