PMID- 10220155
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20041117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 4
DP  - 1999
TI  - Three novel mutations in the gap junction beta 1 (GJB1) gene coding region
      identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E.
      Mutation in brief no 236. Online.
PG  - 339
AB  - Charcot-Marie-Tooth (CMT) disease type CMTX has been linked with mutations in
      GJB1, a gene on chromosome X coding for a gap junction protein, Connexin 32. We
      screened the GJB1 gene for mutations by SSCP analysis and sequencing of candidate
      regions, in five unrelated CMT affected individuals, members of families
      presenting a mode of transmission and clinical findings compatible with CMTX.
      Mutations were detected in all five patients. Three not previously reported
      mutations were identified: C164T, G491A and T359A. Two patients shared the same
      mutation (C164T) while one had a reported mutation (C43T). Restriction enzyme
      digestion confirmed the sequencing results, as well as the co-segregation of the 
      mutation with the disease. The same method was used to screen 150 control X
      chromosomes and the variations were not detected.
FAU - Karadimas, C
AU  - Karadimas C
AD  - Dept. of Neurology, University of Athens, Greece.
FAU - Panas, M
AU  - Panas M
FAU - Chronopoulou, P
AU  - Chronopoulou P
FAU - Avramopoulos, D
AU  - Avramopoulos D
FAU - Vassilopoulos, D
AU  - Vassilopoulos D
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Connexins)
RN  - 0 (connexin 32)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Connexins/*genetics
MH  - DNA Mutational Analysis
MH  - Greece
MH  - Humans
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single-Stranded Conformational
MH  - X Chromosome
EDAT- 1999/04/29 02:03
MHDA- 2000/06/22 10:00
CRDT- 1999/04/29 02:03
PHST- 1999/04/29 02:03 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/29 02:03 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU17>3.0.CO;2-V [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(4):339. doi:
      10.1002/(SICI)1098-1004(1999)13:4<339::AID-HUMU18>3.0.CO;2-S.