|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
|
27564080 |
2016 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In this review, the authors focus on the origin and classification of CMTX, the central nervous system manifestations of CMTX1, the possible mechanism by which GJB1 mutations cause CMT1X, and the emerging therapeutic strategies for CMTX.
|
26385972 |
2016 |
|
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 |