title: Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.
abstract: A high number of cytochrome c oxidase (COX)-negative muscle fibres (approximately 45%) without ragged red fibres was found in a 27-year-old male patient with a single unprovoked episode of severe rhabdomyolysis. There was no family history of neuromuscular disorder and sequencing revealed a novel COX III single base pair deletion (MT-CO3{NC_012920.1}:m.[9559delC]). The deletion creates a frame shift and downstream termination codon affecting the last 136 amino acids (MT-CO3{YP_003024032.1}:p.[Pro118GlnfsX124]). The heteroplasmic mutation load in muscle was approximately 58% and single COX-negative fibres harboured significantly greater levels of mutant mitochondrial DNA than COX-positive fibres.
authors.affiliation: St Vincent's Melbourne Neuromuscular Diagnostic Laboratory, Department of Clinical Neurosciences and Neurological Research, 5th Floor Daly Wing, St Vincent's Hospital, 35 Victoria Parade, Fitzroy, Victoria 3065, Australia. rosetta.marotta@svhm.org.au
authors.forename: Rosetta
authors.initials: R
authors.lastname: Marotta
authors.forename: Judy
authors.initials: J
authors.lastname: Chin
authors.forename: Denise M
authors.initials: DM
authors.lastname: Kirby
authors.forename: Maria
authors.initials: M
authors.lastname: Chiotis
authors.forename: Mark
authors.initials: M
authors.lastname: Cook
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Collins
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D020029:Base Pairing / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D021122:Protein Subunits / Q000235:genetics; D012206:Rhabdomyolysis / Q000201:enzymology* / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D004272:DNA, Mitochondrial; D021122:Protein Subunits; D003576:Electron Transport Complex IV