Myotonic Dystrophy
Myotonic dystrophy is a clinically and genetically heterogeneous disorders. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are both caused by unstable DNA sequences comprising repetitive elements in untranslated regions of a gene: a [CTG]n trinucleotide repeat sequence in the 3’ region of the DMPK gene located at chromosome 19q13, and a [CCTG]n tetranucleotide repeat in the first intron of the ZNF9 gene located at chromosome 3q21. Experteam offers kits for the detection of DM1 and DM2 expanded alleles using “long range PCR”, “TP-PCR”, and Southern blotting as suggested by the guidelines “EMQN Best Practice Guidelines and Recommendations on Myotonic Dystrophy types 1 and 2”.
| Ref. | Product | Technology | Size | Regulatory | Additional Info |
|---|---|---|---|---|---|
| DM.02FL | Myotonic Dystrophy type 1 SB Kit - FL | Capillary Electroph. + South. blot | 40 |  | Appl. Bios. & Beckman Coult. |
| DM.04FL | Myotonic Dystrophy type 1 GC Kit - FL | Capillary Electroph. | 40 | | Appl. Bios. & Beckman Coult. |
| DM.03FL | Myotonic Dystrophy type 2 SB Kit - FL | Capillary Electroph. + South. blot | 40 | | Appl. Bios. & Beckman Coult. |