Article
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
Human molecular genetics - 1 Dec 1998
Strom T M, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K D, Meitinger T
Abstract excerpt
Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy. Mitochondrial DNA deletions have been described in a few patients and a lo...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Child
- Chromosomes, Human, Pair 4
- DNA
- Exons
- Family Health
- Female
- Genes
- Genetic Markers
- Humans
- Introns
- Male
- Membrane Proteins
- Mice
- Molecular Sequence Data