Journal article
Absence of a differentiation defect in muscle satellite cells from DM2 patients
Abstract
Myotonic dystrophy type 1 (DM1) and type II (DM2) are dominantly inherited multisystemic disorders. DM1 is triggered by the pathological expansion of a (CTG)(n) triplet repeat in the DMPK gene, whereas a (CCTG)(n) tetranucleotide repeat expansion in the ZNF9 gene causes DM2. Both forms of the disease share several features, even though the causative mutations and the loci involved differ. Important distinctions exist, such as the lack of a …
Authors
Pelletier R; Hamel F; Beaulieu D; Patry L; Haineault C; Tarnopolsky M; Schoser B; Puymirat J
Journal
Neurobiology of Disease, Vol. 36, No. 1, pp. 181–190
Publisher
Elsevier
Publication Date
October 2009
DOI
10.1016/j.nbd.2009.07.009
ISSN
0969-9961
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdultAlternative SplicingAnalysis of VarianceCELF1 ProteinCell DifferentiationCells, CulturedFemaleFetusGene Expression RegulationHumansMaleMiddle AgedMuscle, SkeletalMyotonic DisordersMyotonin-Protein KinaseProtein Serine-Threonine KinasesRNA-Binding ProteinsReceptor, InsulinSatellite Cells, Skeletal MuscleTrinucleotide Repeat Expansion