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Article

The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case

23 Feb 2010

Abstract excerpt

To the Editor: A dominant missense mutation p.P56S in the vesicle associated membrane protein associated protein B (VAPB) gene was described in eight Brazilian families of Portuguese descent showing a wide spectrum of motor neuron diseases (MNDs) including spinal muscular atrophy (SMA) and familial amyotrophic lateral sclerosis (ALS) (ALS8) (1, 2). Haplotype analysis indicated a common ancestor with a founding...

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PMID: 20447143
DOI: 10.1111/j.1399-0004.2009.01319.x

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