What protein is affected by myotonic dystrophy?
Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The protein produced from the DMPK gene likely plays a role in communication within cells.
Where is the DMPK gene located?
Myotonin-protein kinase
| DMPK | |
|---|---|
| Aliases | DMPK, DM, DM1, DM1PK, DMK, MDPK, MT-PK, Dm15, dystrophia myotonica protein kinase, DM1 protein kinase |
| External IDs | OMIM: 605377 MGI: 94906 HomoloGene: 3247 GeneCards: DMPK |
| Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.32 Start 45,769,709 bp End 45,782,552 bp |
What is the most definitive test for myotonic muscular dystrophy?
One test, called electromyography (EMG), involves inserting a small needle into the muscle. The electrical activity of the muscle is studied and usually shows characteristic patterns of muscle electrical discharge. The definitive test for myotonic dystrophy is a genetic test.
How do you diagnose myotonic dystrophy?
To absolutely confirm a diagnosis of DM1 or DM2, you’ll likely need genetic testing (also referred to as DNA testing). DNA, the genetic material in the nucleus of cells, is isolated from a sample of your blood or other tissue, and then analyzed to determine whether or not a specific mutation is present.
What does the DMPK gene do?
The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. This protein appears to play an important role in muscle, heart, and brain cells.
Is CK elevated in myotonic dystrophy?
Individuals with DM may have mildly or moderately elevated levels of a muscle enzyme called creatine kinase or CK in their blood serum. Some individuals have low levels of immunoglobulin G.
What does DMPK protein do?
The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. This protein appears to play an important role in muscle, heart, and brain cells. The protein may be involved in communication within cells.
What does DMPK gene stand for?
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1.
What does myotonic dystrophy look like?
Symptoms of myotonic dystrophy might include difficulty releasing one’s grip (myotonia), weakness of muscles in the hands and feet, difficulty swallowing and abnormal heart rhythms. Non-muscle symptoms may also include learning difficulties, daytime sleepiness, infertility and early cataracts.
What chromosome is DMPK gene on?
In DM1, the abnormal DNA expansion is in the DMPK (dystrophia myotonica protein kinase) gene on chromosome 19 q 13.3.
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