Condition: Charcot-Marie-Tooth Disease, Type Ib


rs1060503418 in MPZ gene and Charcot-Marie-Tooth Disease, Type Ib PMID 12207932 2002 Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

PMID 8816708 1996 Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

PMID 18337304 2008 Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.

PMID 7693129 1993 Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.

PMID 7694726 1993 Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

PMID 8797476 1996 Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.

PMID 8844219 1996 Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.

PMID 9217235 1997 Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.

PMID 7505151 1993 New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.

PMID 9452099 1998 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

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

PMID 7530774 1994 Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

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

PMID 7504284 1993 Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

PMID 16488608 2006 Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

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 10545037 1999 Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.

PMID 12477701 2003 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.

PMID 10965800 2000 Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

PMID 9452091 1998 Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

PMID 25694466 2015 Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

PMID 8644725 1996 High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.

PMID 20215982 2010 Asymmetric phenotype associated with rare myelin protein zero mutation.

PMID 7688964 1993 Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

PMID 20461396 2010 Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

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 19293842 2009 Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

PMID 9168174 1997 De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

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

PMID 22689911 2012 MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

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 17172621 2006 To evaluate sural nerve biopsy samples from a patient with early-onset Charcot-Marie-Tooth disease type 1B caused by an arg69-to-cys (R69C) mutation.

PMID 23250879 2012 R98C mice, an authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part because the misfolded mutant myelin protein zero is retained in the endoplasmic reticulum where it activates the unfolded protein response.

PMID 10475757 1999 A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening.

PMID 8990016 1997 Novel mutation of the myelin P0 gene in a CMT1B family.

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

PMID 7527371 1994 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.

PMID 18422810 2008 Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

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

PMID 12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PMID 10965800 2000 The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B.

PMID 14711881 2004 Phenotypic clustering in MPZ mutations.

PMID 17602703 2007 Rare myelin protein zero sequence variant in late onset CMT1B.

PMID 16844954 2006 Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.

PMID 24444136 2014 Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

PMID 24053775 2013 Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

PMID 8664899 1996 Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

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