title: Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.
abstract: Forty per cent of patients with mitochondrial myopathies, a diverse group of multisystem diseases predominantly affecting skeletal muscle and the brain, have large deletions of a proportion of muscle mitochondrial DNA (mt DNA). These appeared to be identical in 13 of 28 cases, contained within the region 8286-13595 bp. Analysis of the deletion junction in two cases showed a 13 nucleotide sequence which occurred in the normal genome as a direct repeat flanking the region deleted in the mutant mt DNAs. Mt DNA deletions may arise from recombination or slippage between short sequence repeats during replication.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: I J
authors.initials: IJ
authors.lastname: Holt
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000302:isolation & purification; D004259:DNA-Directed DNA Polymerase; D005784:Gene Amplification; D006801:Humans; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics / Q000302:isolation & purification; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000378:metabolism; D012091:Repetitive Sequences, Nucleic Acid; D019914:Taq Polymerase
chemical_list: D004272:DNA, Mitochondrial; D009124:Muscle Proteins; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase