Myotonic dystrophy-1
| Disorder | |
|---|---|
| OMIM #: | #160900 (Click to access OMIM database) |
| Disorder: | Myotonic dystrophy-1 |
| Also known as: | DYSTROPHIA MYOTONICA 1 DYSTROPHIA MYOTONICA DM STEINERT DISEASE |
| Clinical | |
| Phenotype: | myotonia, muscular dystrophy, muscle weakness, muscle wasting, cataracts, hypogonadism, testicular atrophy, uncoordinated uterine contraction, frontal balding, arrhythmia, cholelithiasis congenital form: difficulty feeding, respiratory distress, developmental delay, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | DMPK, 3' region |
| Base Change: | (CTG)n repeat expansion |
| Amino Acid Change: | |
| Last updated: | 2022-11-08 |
| References |
|---|
| Personal communication; seen at CSC. |
Back