Literature DB >> 4087016

A mitochondrial encephalomyopathy. A combined 31P magnetic resonance and biochemical investigation.

D J Hayes, D Hilton-Jones, D L Arnold, G Galloway, P Styles, J Duncan, G K Radda.   

Abstract

A 15-year-old girl presented with recurrent encephalopathic episodes, epilepsy, myopathy and chronic lactic acidosis. A muscle biopsy revealed the presence of ragged red fibres and mitochondria with paracrystalline inclusions. Biochemical studies on freshly isolated skeletal muscle mitochondria demonstrated a deficiency of NADH-CoQ reductase activity. Investigation of her gastrocnemius muscle at rest by phosphorus nuclear magnetic resonance displayed a reduced phosphocreatine concentration with elevated levels of inorganic phosphate and ADP. Abnormalities were also apparent in her brain spectrum. It is therefore possible that the mitochondrial defect present in skeletal muscle is also being expressed in the brain.

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Year:  1985        PMID： 4087016     DOI： 10.1016/0022-510x(85)90040-1

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  10 in total

Review 1.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; S Servidei; D C DeVivo; E A Schon
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 2.  Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases.

Authors:  J A Morgan-Hughes; A H Schapira; J M Cooper; J B Clark
Journal:  J Bioenerg Biomembr       Date:  1988-06       Impact factor: 2.945

3.  Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy.

Authors:  J Poulton; D M Turnbull; A B Mehta; J Wilson; R M Gardiner
Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318

4.  Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.

Authors:  C L Hoppel; D S Kerr; B Dahms; U Roessmann
Journal:  J Clin Invest       Date:  1987-07       Impact factor: 14.808

Review 5.  Therapy of mitochondrial disorders.

Authors:  H Przyrembel
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

6.  (31)phosphorous and single voxel proton MR spectroscopy and diffusion-weighted imaging in a case of star fruit poisoning.

Authors:  Y L Chan; H K Ng; C B Leung; D K W Yeung
Journal:  AJNR Am J Neuroradiol       Date:  2002-10       Impact factor: 3.825

Review 7.  Applications of magnetic resonance spectroscopy to diagnosis and monitoring of mitochondrial disease.

Authors:  P M Matthews; T Taivassalo
Journal:  Ital J Neurol Sci       Date:  1997-12

8.  Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings.

Authors:  T Suzuki; J Koizumi; H Shiraishi; N Ishikawa; K Ofuku; M Sasaki; T Hori; N Ohkoshi; I Anno
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

9.  Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

Authors:  E Byrne; I Trounce; S Marzuki; X Dennett; S F Berkovic; S Davis; M Tanaka; T Ozawa
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

10.  Impaired aerobic capacity and premature fatigue preceding muscle weakness in the skeletal muscle Tfam-knockout mouse model.

Authors:  Benjamin Chatel; Sylvie Ducreux; Zeina Harhous; Nadia Bendridi; Isabelle Varlet; Augustin C Ogier; Monique Bernard; Julien Gondin; Jennifer Rieusset; Håkan Westerblad; David Bendahan; Charlotte Gineste
Journal:  Dis Model Mech       Date:  2021-09-15       Impact factor: 5.758
  10 in total

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