Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia
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Objectives: We aim to characterize a novel heterozygous missense variant c.1703A > G/p. (Gln568Arg) in the ALDH18A1 gene, identified in a family with autosomal dominant hereditary spastic paraplegia (HSP). We evaluated clinical, ... ...
