What chromosome is myotonic dystrophy found on?

DNA expansion in DMPK gene causes DM1 In DM1, the abnormal DNA expansion is in the DMPK (dystrophia myotonica protein kinase) gene on chromosome 19 q 13.3. The defect was identified in 1992 as the cause of DM1.

Which part of the gene is the myotonic dystrophy mutation in?

Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner.

What chromosome is the DMPK gene on?

Myotonic dystrophy protein kinase (DMPK) was designated as a gene responsible for myotonic dystrophy (DM) on chromosome 19, because the gene product has extensive homology to protein kinase catalytic domains. DM is the most common disease with multisystem disorders among muscular dystrophies.

Where is the DMPK gene located?

Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMPK) is an enzyme that in humans is encoded by the DMPK gene….Myotonin-protein kinase.

What is the type of myotonic dystrophy that has a chromosome 19 defect?

They result in multisystem disorders characterized by skeletal muscle weakness and myotonia (difficulty relaxing muscles after use), cardiac abnormalities, cataracts, and other abnormalities. DM1, the most common type, results from an abnormal DNA expansion in the DMPK gene on chromosome 19.

What is the type of myotonic dystrophy that has a chromosome 3 defect?

DM1, the most common type, results from an abnormal DNA expansion in the DMPK gene on chromosome 19. DM2 arises from an abnormal expansion of DNA in the ZNF9 gene on chromosome 3. Within DM1 are additional subtypes, depending on a person’s age at onset of symptoms.

What is the difference between DM1 and DM2 myotonic dystrophy?

Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, intellectual disability and early death. DM type 2 (DM2) causes similar symptoms to DM1, but is generally a less severe disorder and does not cause congenital disease. DM1 is caused by an alteration in the DMPK gene.

What does DMPK gene stand for?

Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1.

What causes DM1?

DM1 is caused by a change or alteration in the myotonic dystrophy protein kinase (DMPK) gene. DM2 is caused by a change or alteration in the nucleic acid-binding protein (CNBP) gene; this gene is also called the ZNF9 gene.

What does CNBP stand for?

CNBP