Article
A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
Biochemical and biophysical research communications - 15 Apr 2005
Coulbault Laurent, Herlicoviez Danielle, Chapon Françoise, Read Marie-Hélène, Penniello Marie-José, Reynier Pascal, Fayet Guillemette, Lombès Anne, Jauzac Philippe, Allouche Stéphane
Abstract excerpt
We describe a lethal mitochondrial disease in a 10-month-old child who presented with encephalomyopathy. Histochemical and electron microscopy examinations of skeletal muscle biopsy revealed abnormal mitochondria associated with a combined deficiency of complexes I and IV. After excluding mitochondrial DNA deletions and depletion, direct sequencing was used to screen for mutation in all transfer RNA (tRNA) genes....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.