Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis

J Neurol Sci. 1993 Jul;117(1-2):24-7. doi: 10.1016/0022-510x(93)90149-s.

Abstract

In this study multiple deletions of mitochondrial genome were found in a patient presenting with periodic attacks of paralysis. Morphological studies revealed mitochondrial abnormalities along with typical histopathological features of periodic paralysis. Southern blot and PCR analysis revealed multiple mtDNA deletions. Our patient could be affected by two unrelated diseases, idiopathic periodic paralysis and presymptomatic mitochondrial myopathy. Alternatively, mtDNA alterations and oxidative deficiency might express themselves phenotypically as periodic paralytic attacks, although this correlation has never been reported.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Cytochrome-c Oxidase Deficiency*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics
  • Humans
  • Hypokalemia / genetics
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / enzymology
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Muscle Proteins / deficiency*
  • Muscle Proteins / genetics
  • Muscles / enzymology
  • Muscles / pathology
  • Paralyses, Familial Periodic / enzymology
  • Paralyses, Familial Periodic / genetics*
  • Paralyses, Familial Periodic / pathology
  • Sequence Deletion*

Substances

  • DNA, Mitochondrial
  • Muscle Proteins
  • Electron Transport Complex IV