TY - JOUR
T1 - A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
AU - Kleopa, Kleopas A.
AU - Georgiou, Domna Maria
AU - Nicolaou, Paschalis
AU - Koutsou, Pantelitsa
AU - Papathanasiou, Eleftherios
AU - Kyriakides, Theodores
AU - Christodoulou, Kyproula
PY - 2004/9
Y1 - 2004/9
N2 - We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.
AB - We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.
KW - Charcot-Marie-Tooth disease
KW - Novel PMP22 mutation
KW - Peripheral neuropathy
KW - Pressure palsies
UR - http://www.scopus.com/inward/record.url?scp=5444230002&partnerID=8YFLogxK
U2 - 10.1007/s10048-004-0184-1
DO - 10.1007/s10048-004-0184-1
M3 - Article
C2 - 15205993
AN - SCOPUS:5444230002
SN - 1364-6745
VL - 5
SP - 171
EP - 175
JO - Neurogenetics
JF - Neurogenetics
IS - 3
ER -