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Mitochondrial Disorder

Elucidating genetic bases of mitochondrial respiratory chain is essential

Published in Genomics and Genetics Weekly, March 11th, 2005

A recent report focused on molecular diagnostics of mitochondrial disorders.

According to scientists writing in the journal Biochimica Et Biophysica Acta - Bioenergetics, "The mitochondrial respiratory chain (RC) results from the expression of both mitochondrial and nuclear genes. The number of disease-causing mutations in nuclear genes is steadily growing and mitochondrial DNA (mtDNA) deletions and mutations account for no more than 15-20% of pediatric patients. Unfortunately, the disease-causing mutations have been identified for only a small number of patients."

A. Rotig and colleagues of INSERM U393 in Paris continued, "Thus, elucidating...

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