Journal of the Neurological Sciences
Volume 292, Issue 1 , Pages 104-106 , 15 May 2010

A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy

Received 31 December 2009 ,Accepted 8 February 2010.

References 

  1. DiMauro S, Hirano M. Mitochondiral encephalomyopathies; an update. Neuromuscl Dis. 2005;37:222–232
  2. JC Lee Wong. Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation. Genet Med. 2001;3(6):399–404
  3. Goto Y, Nishino I, Horai S, Nonaka I. Detection of DNA fragments encompassing the deletion junction of mitochondrial genome. Biochem Biophys Res Commun. 1996;15:215–219
  4. Solano A, Russo G, Playan A, Parisi M, DiPietro M, Scuderi A, et al. De Toni–Debre–Fanconi syndrome due to a palindrome flanked deletion in mitochondrial DNA. Pediatr Nephrol. 2004;19:790–793
  5. Lee YS, Yap HK, Barshop BA, Lee YS, Rajalingam S, Loke KY. Mitochondrial tubulopathy: the many faces of mitochondrial disorders. Pediatr Nephrol. 2001;16:710–712
  6. Tengan CH, Kiyomoto BH, Rocha MS, Tavares VL, Gabbai AA, Moraes CT. Mitochondrial encephalopathy and hypoparathyrodism associated with a duplication and deletion of mitochondrial deoxyribonucleotide acid. J Clin Endocrinol Metab. 1998;83:125–129
  7. Thorburn DR, Chow CW, Kirby DM. Respiratory chain enzyme analysis in muscle and liver. Mitochondrion. 2004;363–375
  8. Munnich A, Rotig A, Chretien D, Comier V, Bourgeron T, Bonnefont JP, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis. 1996;19:521–527
  9. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nature Rev Genet. 2005;6:389–402

PII: S0022-510X(10)00063-8

doi: 10.1016/j.jns.2010.02.006

Journal of the Neurological Sciences
Volume 292, Issue 1 , Pages 104-106 , 15 May 2010

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