ReviewJournal of medical genetics1994
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
Review in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 33 citations in OpenAlex.
- Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles.Biochemistry and biophysics reports · 2022Article
- Article
- Endocrine disorders in mitochondrial disease.Molecular and cellular endocrinology · 2013Review
- Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome.Molecular and cellular biochemistry · 1997Article
- [Alström syndrome--a rare disease of diabetic association].Medizinische Klinik (Munich, Germany : 1983) · 1997Article
- DIDMOAD syndrome; further studies and muscle biochemistry.Journal of inherited metabolic disease · 1995Article
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations showed unilateral sensorineural hearing loss and the most common mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, which was inherited from his mother. This suggests the DIDMOAD phenotype is a mitochondrial disorder in some cases and is likely to have a heterogeneous aetiology.
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