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Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

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  • 1Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

Abstract

Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases.

PMID:
19118816
[PubMed - indexed for MEDLINE]
PMCID:
PMC2668033
Free PMC Article
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