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J R Soc Med. 1995 April; 88(4): 217P–222P.
PMCID: PMC1295169

The investigation of mitochondrial respiratory chain disease.

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Selected References

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  • Wallace DC. Mitochondrial diseases: genotype versus phenotype. Trends Genet. 1993 Apr;9(4):128–133. [PubMed]
  • Harding AE, Hammans SR. Deletions of the mitochondrial genome. J Inherit Metab Dis. 1992;15(4):480–486. [PubMed]
  • Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol. 1992 Apr;31(4):391–398. [PubMed]
  • Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 1993 Jul;4(3):289–294. [PubMed]
  • Tritschler HJ, Andreetta F, Moraes CT, Bonilla E, Arnaudo E, Danon MJ, Glass S, Zelaya BM, Vamos E, Telerman-Toppet N, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 1992 Jan;42(1):209–217. [PubMed]
  • Van Erven PM, Gabreëls FJ, Wevers RA, Doesburg WH, Ruitenbeek W, Renier WO, Lamers KJ. Intravenous pyruvate loading test in Leigh syndrome. J Neurol Sci. 1987 Feb;77(2-3):217–227. [PubMed]
  • Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain. 1986 Oct;109(Pt 5):915–938. [PubMed]
  • Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis. 1992;15(4):448–455. [PubMed]
  • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. [PubMed]
  • Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet. 1991 Jun 1;337(8753):1311–1313. [PubMed]
  • Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol. 1993 Dec;34(6):827–834. [PubMed]
  • Scholte HR, Agsteribbe E, Busch HF, Hoogenraad TU, Jennekens FG, van Linge B, Luyt-Houwen IE, Ross JD, Ruiters MH, Verduin MH. Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia. Biochim Biophys Acta. 1990 Jul 25;1018(2-3):211–216. [PubMed]
  • Taylor RW, Birch-Machin MA, Bartlett K, Turnbull DM. Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain. Biochim Biophys Acta. 1993 Jun 19;1181(3):261–265. [PubMed]
  • Johnson MA, Bindoff LA, Turnbull DM. Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Ann Neurol. 1993 Jan;33(1):28–35. [PubMed]
  • DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol. 1993 Nov;50(11):1197–1208. [PubMed]
  • Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE. The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain. 1993 Jun;116(Pt 3):617–632. [PubMed]
  • Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428–433. [PubMed]
  • Prick MJ, Gabreëls FJ, Renier WO, Trijbels JM, Sengers RC, Slooff JL. Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver. Arch Neurol. 1981 Dec;38(12):767–772. [PubMed]
  • DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. Mitochondrial myopathies. Ann Neurol. 1985 Jun;17(6):521–538. [PubMed]
  • Bindoff LA, Turnbull DM. Defects of the respiratory chain. Baillieres Clin Endocrinol Metab. 1990 Sep;4(3):583–619. [PubMed]
  • Newman NJ. Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol. 1993 May;50(5):540–548. [PubMed]
  • Steinkamp G, von der Hardt H. Improvement of nutritional status and lung function after long-term nocturnal gastrostomy feedings in cystic fibrosis. J Pediatr. 1994 Feb;124(2):244–249. [PubMed]
  • Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IE, Van 't Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci. 1983 Dec;62(1-3):327–355. [PubMed]
  • Birch-Machin MA, Shepherd IM, Watmough NJ, Sherratt HS, Bartlett K, Darley-Usmar VM, Milligan DW, Welch RJ, Aynsley-Green A, Turnbull DM. Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. Pediatr Res. 1989 May;25(5):553–559. [PubMed]
  • Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492–501. [PubMed]
  • Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. 1990 Nov;86(5):1601–1608. [PMC free article] [PubMed]
  • Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogler H, Schmitz J, Ricour C, Saudubray JM, Munnich A, Rötig A. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr. 1994 Jan;124(1):63–70. [PubMed]
  • Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschütter A, Mayer G, Rahlf G, Servidei S, et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol. 1987;74(3):248–258. [PubMed]
  • Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet. 1992 Apr;1(1):11–15. [PubMed]
  • Pellock JM, Behrens M, Lewis L, Holub D, Carter S, Rowland LP. Kearns-Sayre syndrome and hypoparathyroidism. Ann Neurol. 1978 May;3(5):455–458. [PubMed]

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