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Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up

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Published in 2020 at "Journal of Neurology"

DOI: 10.1007/s00415-020-10246-2

Abstract: Amyotrophic lateral sclerosis type 4 (ALS4) is a familial form of ALS caused by mutations in the SETX gene. To date, there are seven unrelated ALS4 families with four missense mutations (L389S, T31I, R2136H, and… read more here.

Keywords: three year; year follow; family; l389s mutation ... See more keywords