Analysis of muscles of tibial muscular dystrophy (TMD) patients. TMD is a late onset, autosomal dominant distal myopathy of the anterior lower leg that results from titin mutations. Results provide insight into the molecular events leading from the causative mutations to the death of muscle cells.
GPL570:
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Citation:
Screen M, Raheem O, Holmlund-Hampf J, Jonson PH et al. Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. PLoS One 2014;9(3):e90819. PMID: 24618559