Myotonic dystrophy type 2: vastus lateralis biopsies
Summary:
Analysis of vastus lateralis biopsies from myotonic dystrophy type 2 (DM2) patients. DM2 is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of cellular nucleic acid-binding protein. Results provide insight into molecular mechanisms underlying DM2 pathogenesis.
Screen M, Jonson PH, Raheem O, Palmio J et al. Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions. Am J Pathol 2014 Aug;184(8):2322-32. PMID: 24907641