Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Over the years other phenotypes including Charcot Marie Tooth type 2 and hereditary mental retardation with cortical neural migration defects have also been reported to be caused by DYNC1H1 mutations.
|
29306600 |
2018 |
Charcot-Marie-Tooth Disease
|
0.390 |
Biomarker
|
disease |
MGD |
A mutation in the cytoplasmic dynein heavy chain (DHC) gene was discovered to cause an autosomal dominant form of the disease designated Charcot-Marie-Tooth type 2 O disease (CMT2O) in 2011.
|
29379136 |
2018 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the cytoplasmic dynein heavy chain (DHC) gene was discovered to cause an autosomal dominant form of the disease designated Charcot-Marie-Tooth type 2 O disease (CMT2O) in 2011.
|
29379136 |
2018 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development, and Charcot-Marie-Tooth disease, type 2O.
|
26100331 |
2015 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED).
|
24307404 |
2014 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The cytoplasmic dynein heavy chain (DYNC1H1) gene has been increasingly associated with neurodegenerative disorders including axonal Charcot-Marie-Tooth disease (CMT2), intellectual disability and malformations of cortical development.
|
25028179 |
2014 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA-LED) and axonal Charcot-Marie-Tooth (CMT) disease, and lead to sensory neuropathy and striatal atrophy in mutant mice.
|
23742762 |
2013 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Since an autosomal dominant mutation in DYNC1H1 was previously identified in a family with the axonal (type 2) form of Charcot- Marie-Tooth (CMT2) disease and mutations in Dync1h1 in mice also cause impaired neuronal migration in addition to neuropathy, these data together suggest that mutations in DYNC1H1 can lead to a broad phenotypic spectrum and confirm the importance of DYNC1H1 in both central and peripheral neuronal functions.
|
22368300 |
2012 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
DYNC1H1 mutations were recently found in a family with Charcot-Marie-Tooth disease (type 2O) and in a child with mental retardation.
|
22459677 |
2012 |
Charcot-Marie-Tooth Disease
|
0.390 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
|
21820100 |
2011 |
Charcot-Marie-Tooth Disease
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
|
21820100 |
2011 |