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Mitochondrial DNA sequence analysis in congenital myotonic dystrophy
Author(s) -
Thyagarajan D.,
Byrne E.,
Noer S.,
Lertrit P.,
Utthanophol P.,
Kapsa R.,
Marzuki S.
Publication year - 1991
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410300514
Subject(s) - myotonic dystrophy , mitochondrial dna , genetics , sequence (biology) , dna sequencing , sequence analysis , dna , biology , medicine , gene
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.