Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit
Im Unterschied zu den anderen Formen des Wolfram-Syndroms ist DIDMOAD eine mitochondrale Erkrankung. Damit besteht eine Vererbung auf der mütterlichen Linie mit unterschiedlicher Penetranz.
Gliederung
Wolfram-Syndrom
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Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit
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Wolfram-Syndrom 1
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Wolfram-Syndrom 2
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Referenzen:
| 1. |
Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). [^] |
| 2. |
Domènech E et al. (2004) Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families. [^] |
| 3. |
Bundey S et al. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome. [^] |
| 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). [^] |
| 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). [^] |
| 6. |
Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. [^] |
| 7. |
Hofmann S et al. (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. [^] |
