Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions... Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Kearns‐Sayre syndrome. Of the 42 patients without detectable muscle mtDNA deletions, 10 had progressive external ophthalmoplegia and limb weakness, 2 had the Kearns‐Sayre syndrome, 11 had limb weakness without extraocular involvement and 19 had multisystem disorders predominantly affecting the central nervous system. Only 2 patients with mtDNA deletions had clinically affected relatives, compared with 10 of those without deletions. In the 4 patients with polarographic defects exclusively involving complex I (NADH coenzyme Q reductase), the deleted protein‐coding genes were confined to those for complex I subunits. Thirteen other patients with apparently identical deletions had variable clinical and biochemical features. Immunoblots of complex I polypeptides from patients with deletions were either indistinguishable from controls or showed only a mild generalized decrease in all identifiable subunits. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Neurology Wiley

Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

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Abstract

Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Kearns‐Sayre syndrome. Of the 42 patients without detectable muscle mtDNA deletions, 10 had progressive external ophthalmoplegia and limb weakness, 2 had the Kearns‐Sayre syndrome, 11 had limb weakness without extraocular involvement and 19 had multisystem disorders predominantly affecting the central nervous system. Only 2 patients with mtDNA deletions had clinically affected relatives, compared with 10 of those without deletions. In the 4 patients with polarographic defects exclusively involving complex I (NADH coenzyme Q reductase), the deleted protein‐coding genes were confined to those for complex I subunits. Thirteen other patients with apparently identical deletions had variable clinical and biochemical features. Immunoblots of complex I polypeptides from patients with deletions were either indistinguishable from controls or showed only a mild generalized decrease in all identifiable subunits.

Journal

Annals of NeurologyWiley

Published: Dec 1, 1989

References

  • The clinical features of mitochondrial myopathy
    Petty, Petty; Harding, Harding; Morgan‐Hughes, Morgan‐Hughes
  • Maternally inherited mitochondrial myopathy and myoclonic epilepsy
    Rosing, Rosing; Hopkins, Hopkins; Wallace, Wallace
  • Deletions of mitochondrial DNA in patients with mitochondrial myopathies
    Holt, Holt; Harding, Harding; Morgan‐Hughes, Morgan‐Hughes
  • Deletions of muscle mitochondrial DNA
    Holt, Holt; Cooper, Cooper; Morgan‐Hughes, Morgan‐Hughes; Harding, Harding
  • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    Wallace, Wallace; Singh, Singh; Lott, Lott

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