Robuta

Some cases of maternally inherited isolated deafness are caused by mtDNA mutations, frequently following an exposure to aminoglycosides. Two mitochondrial...

Four new missense mutations have been identified through restriction analysis and sequencing of the mitochondrial DNAs (mtDNA) from Leber's hereditary optic...

Up to 60% of families had mtDNA mutations in this study. Therefore, mtDNA mutation seems to be an important cause of non-syndromic familial hearing impairment...