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Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

15 Nov 2012

Abstract excerpt

OBJECTIVE: To identify the genetic variant that causes autosomal dominantly inherited motor neuron disease in a 4-generation Israeli-Arab family using genetic linkage and whole exome sequencing. METHODS: Genetic linkage analysis was performed in this family using Illumina single nucleotide polymorphism chips. Whole exome sequencing was then undertaken on DNA samples from 2 affected family members using an...

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PMID: 23152587
DOI: 10.1212/wnl.0b013e318275963b

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