Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome
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DOI: 10.1080/21678421.2022.2164204
Abstract: Abstract Objectives This paper presents the first report of amyotrophic lateral sclerosis (ALS) kindred due to the KIF5A p.Arg1007Lys, a splice-altering variant. Methods An index case was a 54-year-old male who developed progressive gait difficulty… read more here.
Keywords: index case; expanding spectrum; report; case ... See more keywords