Skip to main content
Log in

DIDMOAD syndrome; further studies and muscle biochemistry

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Aubrey D, Saggu HK, Jenner P, Quinn NP, Harding AE, Marsden CD (1988) Leucocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders.J Neurol Neurosurg Psychiatr 51: 893–902.

    Google Scholar 

  • Bundey S, Poulton K, Whitwell H, Curtis E, Brown I, Fielder AR (1992) Mitochondrial abnormalities in the DIDMOAD syndrome.J Inher Metab Dis 15: 315–319.

    Google Scholar 

  • Cremers CWRJ, Wijdeveld PGAB, Pinckers AJLG (1977) Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome).Acta Paediatr Scand Suppl 264: 1–16.

    Google Scholar 

  • Duvoisin RC, Nicklas WJ, Rotchie V, Sage J, Chokroverty S (1988) Low leucocyte dehydrogenase activity does not correlate with a particular type of multiple system atrophy.J Neurol Neurosurg Psychiatr 51: 1508–1511.

    Google Scholar 

  • Gohil K, Jones DA, Edwards RHT (1981) Analysis of mitochondrial function with techniques applicable to needle muscle biopsy samples.Clin Physiol 1: 195–207.

    Google Scholar 

  • Jackson MJ, Bindoff LA, Weber K et al (1994) Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.Diabetes Care 17: 728–733.

    Google Scholar 

  • Pilz D, Quarrell OWJ, Jones EW (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).J Med Genet 31: 328–330.

    Google Scholar 

  • Scholte HR, Busch FM, Luyt-Houwen MHM et al (1987) Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of lesion in other cells.J Inher Metab Dis 10 (Supplement 1): 81–97.

    Google Scholar 

  • Zheng X, Shoffner JM, Voljavec AS, Wallace DC (1990) Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies.Biochim Biophys Acta 1019: 1–10.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Barrett, T.G., Poulton, K. & Bundey, S. DIDMOAD syndrome; further studies and muscle biochemistry. J Inherit Metab Dis 18, 218–220 (1995). https://doi.org/10.1007/BF00711771

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711771

Keywords

Navigation