Article
The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives.
Mitochondrion - 1 Dec 2005
Levin Barbara C, Sekiguchi Kazumasa, Tully Lois A, Chen Tsu-Lee J, Gropman Andrea
Abstract excerpt
In 1966, a male (17 years old) was clinically examined at the National Institutes of Health (NIH) and diagnosed with Idiopathic Progressive External Ophthalmoplegia (IPEO). A muscle biopsy showing ragged-red fibers implicated mitochondrial involvement. Since the sequence of human mitochondrial DNA (mtDNA) was not determined until 1981, no genetic confirmation of the disease was possible at that time. In 1999,...
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