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Mitochondrial DNA sequence analysis in congenital myotonic dystrophy.

Journal Article


Abstract


  • Mitochondrial genetic modifying factors have been suspected in several autosomally inherited diseases. The congenital variant of myotonic dystrophy, in which there is striking maternal inheritance pattern, is a likely candidate disease. To investigate this possibility, we sequenced completely the mitochondrial genome in 2 patients with congenital 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.

Publication Date


  • 1991

Citation


  • Thyagarajan, D., Byrne, E., Noer, S., Lertrit, P., Utthanophol, P., Kapsa, R., & Marzuki, S. (1991). Mitochondrial DNA sequence analysis in congenital myotonic dystrophy.. Annals of neurology, 30(5), 724-727. doi:10.1002/ana.410300514

Web Of Science Accession Number


Start Page


  • 724

End Page


  • 727

Volume


  • 30

Issue


  • 5

Abstract


  • Mitochondrial genetic modifying factors have been suspected in several autosomally inherited diseases. The congenital variant of myotonic dystrophy, in which there is striking maternal inheritance pattern, is a likely candidate disease. To investigate this possibility, we sequenced completely the mitochondrial genome in 2 patients with congenital 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.

Publication Date


  • 1991

Citation


  • Thyagarajan, D., Byrne, E., Noer, S., Lertrit, P., Utthanophol, P., Kapsa, R., & Marzuki, S. (1991). Mitochondrial DNA sequence analysis in congenital myotonic dystrophy.. Annals of neurology, 30(5), 724-727. doi:10.1002/ana.410300514

Web Of Science Accession Number


Start Page


  • 724

End Page


  • 727

Volume


  • 30

Issue


  • 5