Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
|
8500795 |
1993 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe here a CMT1 family (a 63-year-old man, his brother and his niece) in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR) of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118)Met substitution, detected by direct sequencing the four coding exons of the PMP22 gene.
|
14502374 |
2003 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]).
|
28286897 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12.
|
8674184 |
1996 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results confirm the leading role of PMP22 mutation analysis in the differential diagnosis of CMT and show that the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population.
|
22131320 |
2011 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, GJB1 mutation analysis should be done in patients without the PMP22 duplication and male-to-male transmission of CMT.
|
19691535 |
2009 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most frequent genetic subtype of Charcot-Marie-Tooth disease is CMT1A, linked to chromosome 17p11.2.
|
16775377 |
2006 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype-phenotype correlations in Charcot-Marie-Tooth diseases.
|
24792522 |
2014 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, this has also been observed in mice mildly overexpressing human peripheral myelin protein 22 kD mimicking the most common form of CMT, CMT type 1A.
|
16775375 |
2006 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2.
|
1303231 |
1992 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination.
|
10541586 |
1999 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M).
|
19067730 |
2009 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B), the X chromosome (CMTX) and to another unknown autosome (CMT1C).
|
7849745 |
1994 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although more than seventy clinical and genetic forms are known to date, more than 80% of CMT patients in Western countries have genetic abnormalities associated with PMP22, MPZ, MFN2 and GJB1.
|
25454638 |
2014 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Linkage with the CMT loci already known (CMT1A, CMT1B, CMT2A, CMT2B, CMT2D, and a number of other CMT-related loci) was excluded.
|
10841809 |
2000 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The epithelial membrane protein 3 gene, encoding a PMP22 homologous protein and located on 19q13.3, was ruled out as being responsible for this form of CMT.
|
11112660 |
2001 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism.
|
16437560 |
2006 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutants with 4 or 7 copies of the human PMP22 gene leading to a phenotype significantly close to CMT's disease type 1A were compared with control animals.
|
11328356 |
2001 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene.
|
26432165 |
2015 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Duplications or deletions of the dosage-sensitive gene PMP22 mapped to chromosome 17p12 represent the most frequent causes of CMT type 1A and Hereditary Neuropathy with liability to Pressure Palsies (HNPP), respectively.
|
30258273 |
2018 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although less common than peripheral myelin protein 22 (PMP22) duplication, there are mutations in myelin protein zero (MPZ) responsible for Charcot-Marie-Tooth disease (CMT) with a number of different clinical profiles.
|
21277678 |
2011 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the patient an expanded CTG repeat in the Myotonic Dystrophy Protein Kinase (DMPK) gene was confirmed in combination with a duplication in the Charcot-Marie-Tooth Disease (CMT1A) gene.
|
19846120 |
2010 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Excess PMP22 mutants accumulate in the endoplasmic reticulum (ER) resulting in the inherited neuropathies of Charcot-Marie-Tooth disease.
|
27609586 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study described a novel missense mutation of PMP22 in a Chinese family with CMT phenotype.
|
28748849 |
2017 |
Charcot-Marie-Tooth Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The CMT1A duplication was present in 53.6% of 28 CMT type 1 patients.
|
15241803 |
2004 |