Gene: MPZ

Alternate names for this Gene: CHM|CHN2|CMT1|CMT1B|CMT2I|CMT2J|CMT4E|CMTDI3|CMTDID|DSS|HMSNIB|MPP|P0

Gene Summary: This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: myelin protein zero

Type of Gene: protein-coding

rs1553259643 in MPZ gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

rs121913596 in MPZ gene and Charcot-Marie-Tooth Disease, Dominant Intermediate D PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

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.

rs121913586 in MPZ gene and Charcot-Marie-Tooth disease, Type 2I PMID 15241803 2004 Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

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

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

rs121913595 in MPZ gene and Charcot-Marie-Tooth disease, Type 2J PMID 16775239 2006 Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 15326256 2004 Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

PMID 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

rs121913585 in MPZ gene and Dejerine-Sottas Disease (disorder) PMID 9222756 1997 Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.

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

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

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

PMID 9452055 1998 De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.

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

PMID 7506095 1993 De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

PMID 11596785 2001 The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.

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

PMID 8630052 1996 A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

PMID 9633821 1998 In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient.

rs1553259529 in MPZ gene and Dysmorphic features PMID 17663472 2007 Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

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

PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.

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 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

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

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

PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

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.

rs1553259529 in MPZ gene and Movement Disorders PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

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

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 17663472 2007 Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

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

PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

rs1553259529 in MPZ gene and Muscle hypotonia PMID 26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

PMID 9595994 1998 Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.

PMID 23290023 2013 Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

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

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

PMID 17663472 2007 Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.

PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.

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 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 10406984 1999 Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

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

rs121913595 in MPZ gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 PMID 15184631 2004 A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

PMID 10319895 1999 Congenital hypomyelination due to myelin protein zero Q215X mutation.

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

rs121913599 in MPZ gene and Roussy-Levy Syndrome (disorder) PMID 10553995 1999 The Roussy-Lévy family: from the original description to the gene.