Condition: Hereditary Motor and Sensory Neuropathy Type I
rs104894161 in
EGR2 gene and
Hereditary Motor and Sensory Neuropathy Type I
PMID 10371530 1999 Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
PMID 16198564 2005 Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
PMID 27159987 2016 EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
PMID 17717711 2007 Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
PMID 22765307 2013 Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
PMID 25720245 2014 The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
PMID 20513111 2010 Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.
PMID 12609493 2003 Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
PMID 10762521 2000 Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
PMID 11239949 2001 Its mutation was a different amino acid substitution at codon 381 (Arg381His) which demonstrated congenital hypomyelinating neuropathy or early-onset CMT1.
PMID 12471219 2002 Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.
PMID 26204789 2015 The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
PMID 9537424 1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
PMID 27013732 2016 Survey of variation in human transcription factors reveals prevalent DNA binding changes.
rs121913583 in
MPZ gene and
Hereditary Motor and Sensory Neuropathy Type I
PMID 7693129 1993 Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
PMID 25694466 2015 Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.
PMID 20571287 2010 Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
PMID 20937820 2010 P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.
PMID 7506095 1993 De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
PMID 16495463 2006 Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.
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 10581375 1999 Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.
PMID 20461396 2010 Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
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 8644725 1996 High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.
PMID 8797476 1996 Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
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 22689911 2012 MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
PMID 10923043 2000 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.
PMID 9452091 1998 Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
PMID 18337304 2008 Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
PMID 26234237 2015 Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
PMID 16279991 2005 Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis.
PMID 12207153 2002 An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan.
PMID 27639257 2017 Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing.
PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
PMID 21149811 2010 Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
PMID 11445635 2001 A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
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 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
PMID 18347322 2008 Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
PMID 12707985 2003 Clinical and genetic analysis of CMT1B in a Nigerian family.
PMID 10965800 2000 Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
PMID 14711881 2004 Phenotypic clustering in MPZ mutations.
PMID 9588852 1998 A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.
PMID 7530550 1994 Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.
PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
PMID 22433810 2011 [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].
PMID 25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
PMID 19293842 2009 Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
PMID 22176150 2011 Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
PMID 19259128 2009 Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
PMID 16543539 2006 Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
PMID 7505151 1993 New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
PMID 12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
PMID 11545686 2002 Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
PMID 23649551 2014 X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.
PMID 24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal 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 21504504 2011 Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
PMID 19475438 2010 U1 snRNA mis-binding: a new cause of CMT1B.
PMID 18636082 2009 Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy.
PMID 9888385 1999 Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
PMID 27088055 2016 Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
PMID 19882637 2010 Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.
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 8938258 1996 A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.
PMID 26454100 2015 Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
PMID 12090401 2002 Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
PMID 11182278 2001 Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B.
PMID 29670817 2018 Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
PMID 15170620 2004 Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
PMID 8800924 1996 Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
PMID 12207932 2002 Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
PMID 16844954 2006 Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
PMID 17602703 2007 Rare myelin protein zero sequence variant in late onset CMT1B.
PMID 24028194 2013 Two novel MPZ mutations in Chinese CMT patients.
PMID 15716547 2005 Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.
PMID 7694726 1993 Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
PMID 17143884 2007 New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
PMID 23290023 2013 The p.Asp61Asn mutation is novel in congenital hypomyelinating neuropathy, but was previously reported in a patient with Charcot-Marie-Tooth disease type 1.
PMID 22451207 2012 Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
PMID 11484669 2001 Abstracts of the 6th Meeting of the Italian Peripheral Nerve Study Group. Sondrio, 5-7 April 2001.
PMID 10764043 2000 "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."
PMID 16616847 2006 Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
PMID 23279346 2012 Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.
rs104894617 in
PMP22 gene and
Hereditary Motor and Sensory Neuropathy Type I
PMID 26102530 2015 Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
PMID 9425015 1998 Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
PMID 21827951 2011 Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease.
PMID 18795802 2008 The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized.
PMID 23689413 2013 Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).
PMID 12090404 2002 Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.
PMID 6313869 1983 Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination.
PMID 1303281 1992 Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
PMID 25385046 2014 Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.
PMID 8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
PMID 10399754 1999 Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.
PMID 9585367 1998 "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."
PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
PMID 11314784 2001 Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
PMID 23224996 2013 The PMP22 gene and its related diseases.
PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
PMID 11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
PMID 21252112 2011 Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
PMID 21149811 2010 Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
PMID 23965407 2013 Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.