Condition: Charcot-Marie-Tooth disease, X-linked, 1


rs104894810 in GJB1 gene and Charcot-Marie-Tooth disease, X-linked, 1 PMID 9187667 1997 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.

PMID 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PMID 9452025 1998 A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.

PMID 9099841 1997 Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

PMID 9856562 1998 Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

PMID 10894999 2000 Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.

PMID 10234007 1999 Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

PMID 11891346 2002 Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.

PMID 12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

PMID 15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.

PMID 8889588 1996 Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.

PMID 11723288 2001 Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 8807343 1996 Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

PMID 11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

PMID 7833935 1994 X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

PMID 12325071 2002 Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

PMID 7477983 1995 New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

PMID 8162049 1994 Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

PMID 11180613 2001 A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.

PMID 11891346 2002 We recently showed that Cx32 containing the CMTX-associated mutation, Ser-85-Cys (S85C), forms functional cell-cell channels in paired Xenopus oocytes.

PMID 11571214 2001 Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

PMID 8733054 1996 Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

PMID 12499506 2002 Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.

PMID 15006706 2004 Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

PMID 11437164 2001 Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.

PMID 16301507 2005 X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease.

PMID 10873293 1998 X-linked Charcot-Marie-Tooth disease and connexin32.

PMID 8737658 1996 Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

PMID 7580242 1995 New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 19335535 2009 -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.

PMID 10931843 2000 Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

PMID 28492532 2017 Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

PMID 23827825 2013 Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.

PMID 28283593 2017 Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

PMID 28768847 2017 Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

PMID 8757034 1996 Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

PMID 23209285 2013 Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.

PMID 15006706 2004 Twelve CMTX mutations (V13L, R15Q, R22Q, I30N, V35M, V63I, R75Q, Q80R, W133R, P158A, P172S and N205S) did not affect the ability of Cx32 to form homotypic gap junctions in N2A cells.

PMID 12460545 2002 Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

PMID 10093067 1998 3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.

PMID 8829637 1996 Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.

PMID 9401007 1997 Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

PMID 10737979 2000 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

PMID 19259128 2009 Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

PMID 9018031 1997 New mutations in the X-linked form of Charcot-Marie-Tooth disease.

PMID 9272161 1997 Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.

PMID 10586261 1999 Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.

PMID 11325342 2001 Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

PMID 15006706 2004 Twelve CMTX mutations (V13L, R15Q, R22Q, I30N, V35M, V63I, R75Q, Q80R, W133R, P158A, P172S and N205S) did not affect the ability of Cx32 to form homotypic gap junctions in N2A cells.

PMID 9364054 1997 Altered trafficking of mutant connexin32.

PMID 17353473 2007 CMT1X phenotypes represent loss of GJB1 gene function.