Variant: rs121913595 

    present in Gene: MPZ
    present in Chromosome: 1
    Position on Chromosome: 161306785
    Alleles of this Variant: G/A;T

rs121913595 in MPZ gene and Charcot-Marie-Tooth Disease, Type Ib PMID 9452091 1998 Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

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

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

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

PMID 9217235 1997 Novel mutation of the myelin Po gene in a pedigree 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 9452099 1998 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

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

PMID 12207932 2002 Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

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

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

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

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

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

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

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

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

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

rs121913595 in MPZ gene and Charcot-Marie-Tooth disease, Type 2I PMID 14638973 2003 Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

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

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

PMID 15241803 2004 Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

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.

rs121913595 in MPZ gene and Hereditary Motor and Sensory Neuropathy Type I 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 20461396 2010 Cellular characterization of MPZ mutations presenting with diverse clinical 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.

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.