Skeletal muscle gene expression profiling in mitochondrial disorders Marco Crimi * ,† ,1 , Andreina Bordoni * , Giorgia Menozzi ‡ , Laura Riva ‡ ,§ , Francesco Fortunato * , Sara Galbiati * ,† , Roberto Del Bo * ,† , Uberto Pozzoli ‡ , Nereo Bresolin * ,† ,‡ and Giacomo Pietro Comi * ,† * Department of Neurological Science, University of Milan, Milan, Italy; † I.R.C.C.S. Ospedale Maggiore Policlinico, "Dino Ferrari" Center and Center of Excellence for Neurodegenerative Diseases (CEND), Milan, Italy; ‡ I.R.C.C.S. "E. Medea-La Nostra Famiglia," Bosisio Parini, Italy; and § Department of Biomedical Engineering, Polytechnic University, Milan, Italy 1 Correspondence: Department of Neurological Science (Pad.ne Ponti), University of Milan, via F. Sforza, no. 35, Milan 20122, Italy. E-mail: marcreamy@tiscali.it; neurogene@policlinico.mi.it <h3>SPECIFIC AIMS</h3> Extremely variable clinical and genetic features characterize mitochondrial encephalo-myopathy (MEM). Clinical manifestations become evident when a threshold percentage of mitochondrial DNA (mtDNA) molecules are mutated. However, other factors may contribute to the wide range of phenotypes associated with the same mutation. These complex genotype-phenotype relations must be governed by nuclear-mitochondrial interactions, but the precise nature of this genomic "cross-talk" is unknown. To establish a possible role for the nuclear genome
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