TY - JOUR
T1 - Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
AU - Colomer, J.
AU - Gooding, R.L.
AU - Angelicheva, Dora
AU - King, R.H.M.
AU - Guillen-Navarro, E.
AU - Parman, Y.
AU - Nascimento, A.
AU - Conill, J.
AU - Kalaydjieva, Luba
PY - 2006
Y1 - 2006
N2 - We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2. (C) 2006 Elsevier B.V. All rights reserved.
AB - We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2. (C) 2006 Elsevier B.V. All rights reserved.
U2 - 10.1016/j.nmd.2006.05.005
DO - 10.1016/j.nmd.2006.05.005
M3 - Article
SN - 0960-8966
VL - 16
SP - 449
EP - 453
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 7
ER -