PMID- 10923043
OWN - NLM
STAT- MEDLINE
DCOM- 20000915
LR  - 20231213
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 16
IP  - 2
DP  - 2000 Aug
TI  - Mutations in the peripheral myelin protein zero and connexin32 genes detected by 
      non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with 
      Charcot-Marie-Tooth disease.
PG  - 177-8
AB  - Mutations of myelin protein zero (MPZ) and connexin32 (Cx32) genes were examined 
      in 70 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT) without 
      PMP22 gene duplication. A new method, which could detect base pair mismatches 
      with Rnase cleavage on agarose gel electrophoresis, identified 5 and 4 mutations 
      of the MPZ and Cx32 genes, respectively, including one novel mutation (Ser128Ter) 
      of Cx32. This non-isotopic RNase cleavage assay (NIRCA) employed in the present 
      study is very suitable for exploring mutations of MPZ and Cx32 genes in a large 
      number of CMT patients, as the phenotype of patients with CMT is greatly 
      divergent from demyelinating to axonal pathology.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Yoshihara, T
AU  - Yoshihara T
AD  - Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan.
FAU - Yamamoto, M
AU  - Yamamoto M
FAU - Doyu, M
AU  - Doyu M
FAU - Mis, K I
AU  - Mis KI
FAU - Hattori, N
AU  - Hattori N
FAU - Hasegawa, Y
AU  - Hasegawa Y
FAU - Mokuno, K
AU  - Mokuno K
FAU - Mitsuma, T
AU  - Mitsuma T
FAU - Sobue, G
AU  - Sobue G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Connexins)
RN  - 0 (Myelin P0 Protein)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - EC 3.1.- (Ribonucleases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Base Pair Mismatch
MH  - Charcot-Marie-Tooth Disease/enzymology/*genetics
MH  - Connexins/*genetics
MH  - DNA Mutational Analysis/methods
MH  - Female
MH  - Humans
MH  - Hydrolysis
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Myelin P0 Protein/*genetics/metabolism
MH  - Myelin Proteins/genetics
MH  - Phenotype
MH  - Ribonucleases/genetics/*metabolism
MH  - Gap Junction beta-1 Protein
EDAT- 2000/08/03 00:00
MHDA- 2000/09/23 00:00
CRDT- 2000/08/03 00:00
PHST- 2000/08/03 00:00 [pubmed]
PHST- 2000/09/23 00:00 [medline]
PHST- 2000/08/03 00:00 [entrez]
AID - 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5 [pii]
AID - 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5 [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Aug;16(2):177-8. doi: 
      10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5.