Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot–Marie–Tooth neuropathy

Journal of the Neurological Sciences - Tập 207 - Trang 77-86 - 2003
Thierry Kuntzer1, Murielle Dunand1, Daniel F Schorderet2, Jean-Michel Vallat3, Angelika F Hahn4, Julien Bogousslavsky1
1Service de Neurologie, Centre Hospitalier Universitaire Vaudois, BH 7/306, 1011, Lausanne, Switzerland
2Division de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
3Service de Neurologie, Centre Hospitalier Universitaire Dupuytren, Limoges, France
4Department of Neurological Sciences, London, Ontario, Canada