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Article

Intraneural GJB 1 gene delivery improves nerve pathology in a model of X ‐linked C harcot– M arie– T ooth disease

25 May 2015

Abstract excerpt

OBJECTIVE: X-linked Charcot-Marie-Tooth disease (CMT1X) is a common inherited neuropathy caused by mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32). Clinical studies and disease models indicate that neuropathy mainly results from Schwann cell autonomous, loss-of-function mechanisms; therefore, CMT1X may be treatable by gene replacement. METHODS: A lentiviral vector LV.Mpz-GJB1...

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PMID: 26010264
DOI: 10.1002/ana.24441

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