[PDF][PDF] Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
CY Chow, JE Landers, SK Bergren, PC Sapp… - The American Journal of …, 2009 - cell.com
The American Journal of Human Genetics, 2009•cell.com
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.
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.
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 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.
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