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Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
(2008)
Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ...
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
(2004)
We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal ...