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Letter

Nature Genetics 38, 576–582 (1 May 2006) | doi:10.1038/ng1776

Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah Calvo , Mohit Jain , Xiaohui Xie , Sunil A Sheth , Betty Chang , Olga A Goldberger , Antonella Spinazzola , Massimo Zeviani , Steven A Carr & Vamsi K Mootha

The majority of inherited mitochondrial disorders are due to mutations not in the mitochondrial genome (mtDNA) but rather in the nuclear genes encoding proteins targeted to this organelle. Elucidation of the molecular basis for these disorders is limited because only half of the estimated 1,500 mitochondrial proteins have been identified.