Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
By contrast to other forms of Wolfram syndrome, DIDMOAD is a mitochondrial disorder and therefore characterized by maternal inheritance and variable penetrance.
Wolfram syndrome
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Diabetes insipidus and mellitus with optic atrophy and deafness
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Wolfram syndrome 1
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Wolfram syndrome 2
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| 1. |
Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). 
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| 2. |
Domènech E et al. (2004) Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
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| 3. |
Bundey S et al. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome.
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| 4. |
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).
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| 5. |
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
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| 6. |
Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
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| 7. |
Hofmann S et al. (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
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| 8. |
OMIM.ORG article Omim 598500
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