Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy - Pacheu-Grau, David; Callegari, Sylvie; Emperador, Sonia; Thompson, Kyle; Aich, Abhishek; Topol, Sarah E; Spencer, Emily G; McFarland, Robert; Ruiz-Pesini, Eduardo; Torkamani, Ali; Taylor, Robert W; Montoya, Julio; et al. (Human molecular genetics, 2018)
Keywords: Carrier Proteins - genetics; Child; DNA, Mitochondrial - genetics; Exome Sequencing; Female; Fibroblasts - metabolism; Genetic Predisposition to Disease; Humans; Lactic Acid - cerebrospinal fluid; Membrane Transport Proteins - genetics; Mitochondria - genetics; Mitochondria - pathology; Mitochondrial Membrane Transport Proteins - genetics; Mitochondrial Membranes - metabolism; Mitochondrial Membranes - pathology; Mitochondrial Myopathies - cerebrospinal fluid; Mitochondrial Myopathies - genetics; Mitochondrial Myopathies - pathology; Mitochondrial Precursor Protein Import Complex Proteins; Mutation; Saccharomyces cerevisiae - genetics; Saccharomyces cerevisiae Proteins - genetics