Article

The role of Wolframin in the pathogenesis of Wolfram or Didmoad syndrome

2003-01-01

Abstract excerpt

The Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by insulin-dependent diabetes mellitus (IDDM) and bilateral progressive optic atrophy. Manifestations in neural and neuroendocrine tissues generally arise, but are not a requirement for diagnosis. A novel gene was identified in 1998 on chromosome 4p16.1 (WFS1 or Wolframin) that contains loss-of-function mutations in a majo...

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Literature Corpus work: 31184beb-709e-53b4-9f45-badd219eed3f
DOI: 10.21954/ou.ro.0000e883

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