Variant: rs121913586 

    present in Gene: MPZ
    present in Chromosome: 1
    Position on Chromosome: 161306414
    Alleles of this Variant: C/G;T

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.

rs121913586 in MPZ gene and Dejerine-Sottas Disease (disorder) PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

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

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

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

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 9222756 1997 Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.

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

PMID 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

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