Article
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
Molecular genetics and metabolism - 1 Jan 2001
Gómez-Zaera M, Strom T M, Rodríguez B, Estivill X, Meitinger T, Nunes V
Abstract excerpt
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disease mainly characterized by familial diabetes mellitus and optic atrophy. WS patients frequently present with other clinical features such as diabetes insipidus, renal abnormalities, psychiatric disorders, and a variety of neurologic symptoms: deafness, ataxia, peripheral neuropathy. A gene responsible for Wolfram Syndrome (WFS1) has been...
Topics
- Alleles
- Alzheimer Disease
- Base Sequence
- Chromosomes, Human, Pair 4
- Codon, Nonsense
- DNA, Mitochondrial
- Deafness
- Diabetes Mellitus
- Exons
- Family Health
- Female
- Gene Deletion