| Name |
DM1
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
NA
|
| Experiment Method |
PCR, long PCR-Southern blot, small pool PCR, AciI digestion, and sequencing.
|
| Up/Down |
Down
|
| Pro/Anti |
Anti
|
| Funtion Description |
Five patients of our registry, belonging to the same family, carried CCG interruptions at the 3-end of the CTG expansion. Some of them presented atypical traits such as very late onset of symptoms and a severe axial and proximal weakness requiring walking assistance.
|
| Regulation Gene |
DM1
|
| Year |
2020
|
| Pubmed ID |
31608518
|
| Title |
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
|
| Drug |
NA
|
| Disease |
NA
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
NA
|
| High-throughput |
null
|