Variant: rs121913583 

    present in Gene: MPZ
    present in Chromosome: 1
    Position on Chromosome: 161306870
    Alleles of this Variant: T/C

rs121913583 in MPZ gene and Charcot-Marie-Tooth Disease, Type Ib PMID 7694726 1993 Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy 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 9452099 1998 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).

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

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

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

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

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

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

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

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

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

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

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

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

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

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.