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Article

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion

22 Sept 2017

Abstract excerpt

We previously discovered a frameshift variant in ARHGEF28 , encoding rho guanine nucleotide exchange factor (RGNEF), in a patient with amyotrophic lateral sclerosis (ALS) following our observation of RGNEF cytoplasmic inclusions in the patient's motor neurons.1 This variant was subsequently observed in a Chinese cohort of patients with ALS and in ALS-discordant identical twins.2,3 Herein, we describe the expanded...

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PMID: 28971145
DOI: 10.1212/nxg.0000000000000190

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