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 |
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
|
9452099 |
1998 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy.
|
12325071 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
|
12402337 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
10923043 |
2000 |
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 |
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
|
14627639 |
2003 |
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 |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ten families with X-linked dominant CMT neuropathy (CMTX1) were screened for point mutations of the connexin32 (Cx32, GJB1) gene.
|
8004109 |
1994 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
|
7477983 |
1995 |
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 |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
|
12707076 |
2003 |
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 |
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
|
11437164 |
2001 |
Charcot-Marie-Tooth disease, X-linked, 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
|
12477701 |
2003 |
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 |
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 |
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
|
12497641 |
2003 |
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 |
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 |
Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
|
10894999 |
2000 |