|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two point mutations affecting different domains of Cx32 were identified in two CMTX patients.
|
11140841 |
2000 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
|
10938190 |
2000 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
|
10894999 |
2000 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
|
11030070 |
2000 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
|
10737979 |
2000 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
10220155 |
1999 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience.
|
10586284 |
1999 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
|
10071100 |
1999 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
|
10234007 |
1999 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
|
9452099 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.
|
9469569 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
|
9452025 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Charcot-Marie-Tooth disease and connexin32.
|
10873293 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Only 3 of 23 (13%) possible CMTX families had connexin 32 mutations.
|
9818870 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
|
9856562 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
|
9099841 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
|
8990008 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our findings show the difficulty in distinguishing CMTX patients from CMT1 and CMT2 patients, and they emphasize the need for Cx32 mutation screening in families previously diagnosed with CMT2.
|
9272161 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
|
10732813 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
|
9187667 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
New mutations in the X-linked form of Charcot-Marie-Tooth disease.
|
9018031 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Connexin32 and X-linked Charcot-Marie-Tooth disease.
|
9361298 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.
|
8698335 |
1996 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region.
|
8737658 |
1996 |