Related Experiment Video
Updated: Aug 21, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Myotonic dystrophy type 2 and related myotonic disorders
Giovanni Meola1, Richard T Moxley
1Department of Neurology, University of Milan, Istituto Policlinico San Donato, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy. giovanni.meola@unimi.it
Abstract:
The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting, myotonia, cataracts, hypogonadism and other system manifestations. Myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat in 3' UTR of the DM protein kinase (DMPK) gene on chromosome 19q 13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable expansion of a CCTG tetraplet repeat in intron 1 of the zinc finger 9 (ZFN9 gene) on chromosome 3q 21.3. However, the clinical diagnosis of DM2 is more complex than that of DM1, and conventional molecular genetic methods used for diagnosis of DM1 are not helpful for DM2. We here describe the detailed clinical, laboratory and biomolecular tests to identify DM2 and related myotonic disorders. At present, foci of accumulated noncoding CCTG repeat RNA (ribonuclear inclusions) in the cell nuclei are thought to interfere with the regulation and expression of several genes at the basis of multisystemic aspects of myotonic dystrophy type 2.
Related Concept Videos
Alterations in Muscle Tone lll
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Satellite Stem Cells and Muscular Dystrophy
Alterations in Muscle Tone ll
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin
The binding of dantrolene to the RYR1...
Cardiomyopathy II: Dilated Cardiomyopathy

