|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Severe neuropathy with leaky connexin32 hemichannels.
|
15852376 |
2005 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
|
12325071 |
2002 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
|
11891346 |
2002 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
|
11180613 |
2001 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
|
11723288 |
2001 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
|
9633821 |
1998 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
|
9099841 |
1997 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
|
8807343 |
1996 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
|
8889588 |
1996 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
|
7477983 |
1995 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
|
8162049 |
1994 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
|
7833935 |
1994 |
|
Charcot-Marie-Tooth disease, X-linked, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypokalemic periodic paralysis type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both patients bear the C164T mutation of the connexin 32 gene but no mutations of the genes responsible for hyper- or hypokalemic periodic paralysis.
|
11723288 |
2001 |
|
Hypokalemic periodic paralysis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both patients bear the C164T mutation of the connexin 32 gene but no mutations of the genes responsible for hyper- or hypokalemic periodic paralysis.
|
11723288 |
2001 |
|
Generalized muscle weakness
|
|
0.010 |
GeneticVariation
|
BEFREE |
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
|
11723288 |
2001 |