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Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020

Andreini I, Moro F, Africa L M, Rubegni A, Santorelli F M, Scarpini C, Sicurelli F, Battisti C

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PMID: 32186211
DOI: 10.1080/21678421.2020.1740271

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