present in Gene: MPZ
present in Chromosome: 1
Position on Chromosome: 161306152
Alleles of this Variant: -/C
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.
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.