CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry.
|
29724652 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, only four mutations in NDRG1 -c.442C>T (p.Arg148*), c.739delC (p.His247Thrfs*74), c.538-1G>A, and duplication of exons 6-8-have been described in CMT4D patients.
|
28776325 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
To date, only four mutations in NDRG1 -c.442C>T (p.Arg148*), c.739delC (p.His247Thrfs*74), c.538-1G>A, and duplication of exons 6-8-have been described in CMT4D patients.
|
28776325 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT.
|
27982524 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
The characteristic N-Myc downstream-regulated gene 1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X.
|
24028195 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
BEFREE |
However, the cellular function of NDRG1 and how it causes CMT4D are poorly understood.
|
23813961 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
MGD |
CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1).
|
21303696 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
This report extends the clinical knowledge of CMT4D and indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied.
|
17142040 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
MGD |
In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D.
|
15082788 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
BEFREE |
In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D.
|
15082788 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
|
10831399 |
2000 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
|
10831399 |
2000 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|