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    Am J Hum Genet. 2009 Jan;84(1):85-8.

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

    Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH.

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

    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: 2668033

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