Mitochondrial DNA sequence analysis in congenital myotonic dystrophy
- 1 November 1991
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 30 (5) , 724-727
- https://doi.org/10.1002/ana.410300514
Abstract
Mitochondrial genetic modifying factors have been suspected in several autosomally inherited diseases. The congenital variant of myotonic dystrophy, in which there is a striking maternal inheritance pattern, is a likely candidate disease. To investigate this possibility, we sequenced completely the mitochondrial genome in 2 patients with congential myotonic dystrophy. Comparison of the two sequences with control data failed to reveal a specific nucleotide variant or length variant in this disease. We conclude that a mitochondrial genetic modifying factor is not present in congenital myotonic dystrophy.Keywords
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