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Maternally inherited mitochondrial myopathy and myoclonic epilepsy

✍ Scribed by Howard S. Rosing; Dr Linton C. Hopkins; Douglas C. Wallace; Charles M. Epstein; Karen Weidenheim

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
954 KB
Volume
17
Category
Article
ISSN
0364-5134

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Some cases of maternally inherited isolated deafness are caused by mtDNA mutations, frequently following an exposure to aminoglycosides. Two mitochondrial genes have been clearly described as being affected by mutations responsible for this pathology: the ribosomal RNA 12S gene and the transfer RNA