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Mitochondrial DNA sequence analysis in congenital myotonic dystrophy
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AbstractMitochondrial 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.
Title: Mitochondrial DNA sequence analysis in congenital myotonic dystrophy
Description:
AbstractMitochondrial 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.
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