Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders.
Fischel-Ghodsian
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Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California 90048, USA.
D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D017240:Mitochondrial Myopathies / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D009928:Organ Specificity; D010641:Phenotype; D011304:Presbycusis / Q000209:etiology / Q000235:genetics
D004272:DNA, Mitochondrial