PMID- 10873293
OWN - NLM
STAT- MEDLINE
DCOM- 20021213
LR  - 20231213
IS  - 1065-6995 (Print)
IS  - 1065-6995 (Linking)
VI  - 22
IP  - 11-12
DP  - 1998 Nov
TI  - X-linked Charcot-Marie-Tooth disease and connexin32.
PG  - 807-13
AB  - We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five 
      families showed mutations in the coding region of the connexin32 (Cx32) gene. The 
      mutations included five nonsense mutations, 17 missense mutations, two medium 
      size deletions and one insertion. Most missense mutations showed a mild clinical 
      phenotype and slowing of motor nerve conduction velocities. All five nonsense 
      mutations, the larger deletion and the insertion showed severe clinical 
      phenotype. Four CMTX1 families with mild clinical phenotype showed no point 
      mutations of the Cx32 gene coding region. Two mutations of the non-coding region 
      were identified. The first mutation was located in the nerve specific Cx32 
      promoter, the second mutation was located in the 5' untranslated region of the 
      mRNA.
CI  - Copyright 1998 Academic Press.
FAU - Ionasescu, V V
AU  - Ionasescu VV
AD  - Division of Medical Genetics, Department of Pediatrics, University of Iowa 
      Hospitals and Clinics, Iowa City, IA 52242, USA.
LA  - eng
PT  - Journal Article
PL  - England
TA  - Cell Biol Int
JT  - Cell biology international
JID - 9307129
RN  - 0 (Codon, Nonsense)
RN  - 0 (Connexins)
SB  - IM
MH  - Age of Onset
MH  - Amino Acid Sequence/genetics
MH  - Charcot-Marie-Tooth Disease/*genetics/physiopathology
MH  - Codon, Nonsense/genetics
MH  - Connexins/*deficiency/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Gene Deletion
MH  - Genetic Diseases, X-Linked/*genetics
MH  - Genetic Testing
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Mutation, Missense/genetics
MH  - Neural Conduction/genetics
MH  - Peripheral Nerves/physiopathology
MH  - Phenotype
MH  - Sex Characteristics
MH  - X Chromosome/*genetics
MH  - Gap Junction beta-1 Protein
EDAT- 2000/06/30 00:00
MHDA- 2002/12/17 04:00
CRDT- 2000/06/30 00:00
PHST- 2000/06/30 00:00 [pubmed]
PHST- 2002/12/17 04:00 [medline]
PHST- 2000/06/30 00:00 [entrez]
AID - S1065-6995(98)90387-0 [pii]
AID - 10.1006/cbir.1998.0387 [doi]
PST - ppublish
SO  - Cell Biol Int. 1998 Nov;22(11-12):807-13. doi: 10.1006/cbir.1998.0387.