Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2gene mutations

Authors :: Azzedine, H
Ravisé, N
Verny, C
Gabrëels-Festen, A
Lammens, M
Grid, D
Vallat, J M.
Durosier, G
Senderek, J
Nouioua, S
Hamadouche, T
Bouhouche, A
Guilbot, A
Stendel, C
Ruberg, M
Brice, A
Birouk, N
Dubourg, O
Tazir, M
LeGuern, E
Source :: Neurology (Ovid); August 2006, Vol. 67 Issue: 4 p602-606, 5p
Publication Year :: 2006
Abstract: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal dominant, X-linked, and autosomal recessive (AR) CMT. A locus responsible for the demyelinating form of ARCMT was assigned to the 5q23-q33 region (CMT4C) by homozygosity mapping. Recently, 11 mutations were identified in the SH3TC2(KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin.