title: Mitochondrial DNA sequence analysis in congenital myotonic dystrophy.
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.
authors.affiliation: Department of Neurology, St. Vincent's Hospital, Victoria, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Thyagarajan
authors.forename: E
authors.initials: E
authors.lastname: Byrne
authors.forename: S
authors.initials: S
authors.lastname: Noer
authors.forename: P
authors.initials: P
authors.lastname: Lertrit
authors.forename: P
authors.initials: P
authors.lastname: Utthanophol
authors.forename: R
authors.initials: R
authors.lastname: Kapsa
authors.forename: S
authors.initials: S
authors.lastname: Marzuki
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial