Gene expression profiling in tibial muscular dystrophy and control skeletal muscle

Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle cells in TMD is largely unknown. To identify these components, we used gene expression profiling of muscle biopsies from TMD patients and healthy controls.

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Screen M, Raheem O, Holmlund-Hampf J, Jonson PH, Huovinen S, Hackman P, Udd B