Mitochondrial abnormalities in the DIDMOAD syndrome

Sarah Bundey; Karen T. Poulton; Helen L Whitwell; Elisabeth S. Curtis; Ian R Brown; A. R. Fielder

@article{Bundey1992MitochondrialAI, title={Mitochondrial abnormalities in the DIDMOAD syndrome}, author={Sarah Bundey and Karen T. Poulton and Helen L Whitwell and Elisabeth S. Curtis and Ian R Brown and A. R. Fielder}, journal={Journal of Inherited Metabolic Disease}, year={1992}, volume={15}, pages={315-319} }

S. BUNDEY 1, K. POULTON 2, H. WHITWELL 2, E. CURTIS 2, I. A. R. BROWN 3 and A. R. FIELDER'* 1Clinical Genetics Unit, Birmingham Maternity Hospital, Birmingham B15 2TG; 2Midland Centre for Neurosurgery and Neurology, Holly Lane, Smethwick B67 7JX; 3Eye, Ear and Throat Hospital, Shrewsbury SY1 1JS; 4Department of Ophthalmology, Birmingham and Midland Eye Hospital, Church Street, Birmingham B3 2NS, UK

G Finocchiaro, F Taroni, S DiDonato
1986

K Gohil, DA Jones, Edwards RHT
Clin Physiol
1981

Mitochondrial abnormalities in the DIDMOAD syndrome

From This Paper

Figures, tables, and topics from this paper.

Figures & Tables

Explore Further: Topics Discussed in This Paper

Citations

Publications citing this paper.

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family

Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis

Mechanisms Associated with Aging and Age-Related Disease in Drosophila

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage.

Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis

A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.

Wolfram syndrome 1 and Wolfram syndrome 2 : clinical implications for pediatricians

A clinical case study of a Wolfram syndrome–affected family: pattern-reversal visual evoked potentials and electroretinography analysis

Wolfram syndrome and WFS1 gene.

References

Publications referenced by this paper.

Psychiatric findings in Wolfram syndrome homozygotes

Thiamine-responsive anemia in DIDMOAD syndrome.

Glutamate dehydrogenase

Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria.

Optic atrophy in Wolfram syndrome.

Analysis of muscle mitochondrial function with techniques applicable to needle biopsy samples

Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.

Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister.