What is it about?

Mitochondria genetics in a family with strokes, dementia and ocular myopathy

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Why is it important?

It explains that this disorder is due to mitochondrial DNA

Perspectives

Genetic counseling adds pathogenesis to a mitochondrial brain disease

Prof Corrado Angelini
Universita degli Studi di Padova Polo Bibliotecario di Scienze Farmacologia e Scienze Farmaceutiche

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This page is a summary of: MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts., Proceedings of the National Academy of Sciences, May 1992, Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.89.10.4221.
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