Data related to article "The first case of the TARDBP p.G294V mutation in a homozygous state is a single pathogenic allele sufficient to cause ALS"

Description of the first ALS patient presenting the c.881G>T p.G294V TARDBP mutation in homozygous status, collection of a series of heterozygous Italian ALS patients and characterization of the haplotype context of this mutation.

STUDY SUPPORTED BY: Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia, Grant FRRB 2015-0023 ) and the Italian Ministry of Health (Grant RF 2013-02355764).

Related Organizations

Istituto Neurologico Carlo Besta
Italy

Keywords

amyotrophic lateral sclerosis, mutation, TARDBP

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