|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.
|
10093067 |
1998 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
R98C mice, an authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part because the misfolded mutant myelin protein zero is retained in the endoplasmic reticulum where it activates the unfolded protein response.
|
23250879 |
2012 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
|
20461396 |
2010 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
|
7693129 |
1993 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
|
12207932 |
2002 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
|
8844219 |
1996 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
|
19293842 |
2009 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
|
9168174 |
1997 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
BEFREE |
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
|
9168174 |
1997 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
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.
|
12477701 |
2003 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
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.
|
12477701 |
2003 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
18337304 |
2008 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
|
10965800 |
2000 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
|
16488608 |
2006 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
BEFREE |
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.
|
30785048 |
2019 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
|
21840889 |
2011 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
|
8644725 |
1996 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
|
7530774 |
1994 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
|
12402337 |
2002 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
A |
0.820 |
CausalMutation
|
CLINVAR |
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
|
22689911 |
2012 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
|
9452099 |
1998 |
|
rs121913590
|
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
|
7694726 |
1993 |