|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.
|
8938258 |
1996 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
8630052 |
1996 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
Charcot-Marie-Tooth disease, Type 2I
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
Charcot-Marie-Tooth disease, Type 2I
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
|
9595994 |
1998 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
|
11438991 |
2001 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
|
7693129 |
1993 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
|
12207932 |
2002 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
|
8844219 |
1996 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
|
26454100 |
2015 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
|
8816708 |
1996 |
|
Hereditary liability to pressure palsies
|
|
0.010 |
GeneticVariation
|
BEFREE |
CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy.
|
9455987 |
1997 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
|
7506095 |
1993 |
|
Dejerine-Sottas Disease (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
9452055 |
1998 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
|
29670817 |
2018 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
|
12090401 |
2002 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
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 |
|
Charcot-Marie-Tooth disease, Type 2I
|
|
0.700 |
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 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
|
18337304 |
2008 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B.
|
11182278 |
2001 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
|
10965800 |
2000 |
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
0.800 |
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 |
|
Charcot-Marie-Tooth disease, Type 2I
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
|
14638973 |
2003 |