Variant: rs121913585 

    present in Gene: MPZ
    present in Chromosome: 1
    Position on Chromosome: 161307304
    Alleles of this Variant: G/A;C

rs121913585 in MPZ gene and Charcot-Marie-Tooth Disease, Type Ib 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 9452091 1998 Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

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

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

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

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

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 7505151 1993 New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 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 7694726 1993 Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

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

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

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

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

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).

rs121913585 in MPZ gene and Hereditary Motor and Sensory Neuropathy Type I 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.