Short Communication
Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion
First published: 01 May 1994
No abstract is available for this article.
References
- 1Gervitz KD, Obermaier-Kusser B, Zierz S et al (1990) Mitochondrial myopathies: divergencies of genetic deletions, biochemical defects and the clinical syndromes. J Neurol, 237: 5–10.
- 2Harding AE, Hammans SR (1992) Deletions of the mitochondrial genome. J Inher Metab Dis, 15: 480–486.
- 3McShane MA, Hammans SR, Sweeney M et al (1991) Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet, 48: 39–42.
- 4Moraes CT, Schoen EA, DiMauro S, Miranda F (1989) Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun, 160: 765–771.
- 5Munnich A, Rustin P, Rotig D et al (1992) Clinical aspects of mitochondrial disorders. J Inher Metab Dis, 15: 448–455.
- 6Poulton J (1992) Duplications of mitochondrial DNA: implications for pathogenesis. J Inher Metab Dis, 15: 487–498.
- 7Rotig A, Cormier V, Blanche S et al (1990) Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest, 86: 1601–1608.
- 8Shoubridge EA, Kaparti G, Hastings KEM (1990) Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell, 62: 43–49.
- 9Wallace DC (1992) Disease of the mitochondrial DNA. Annu Rev Biochem, 61: 1195–1212.