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Molecular analysis and clinical correlations of the Huntington's disease mutation

✍ Scribed by J.C MacMillan; R.G Snell; A Tyler; G.D Houlihan; I Fenton; J.P Cheadle; L.P Lazarou; J.D Shaw; P.S Harper

Book ID
119066652
Publisher
The Lancet
Year
1993
Tongue
English
Weight
651 KB
Volume
342
Category
Article
ISSN
0140-6736

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## Abstract Huntington's disease (HD) is caused by an abnormally expanded CAG repeat in the __IT__‐__15__ gene, which encodes a widely expressed protein called huntingtin. Abnormalities of mitochondrial respiratory chain function, specifically complex II/III, have been identified in HD striatum and