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Nat Genet. 2006 Apr;38(4):411-3. Epub 2006 Feb 26.

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

Author information

1
Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland. mattgreenway@rcsi.ie

Abstract

We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.

PMID:
16501576
DOI:
10.1038/ng1742
[Indexed for MEDLINE]

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