Publication | Open Access

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

Rare DiseasesSpg4 GeneMendelian DisorderKorean FamilyGenetic DisorderMedicineGeneticsMolecular GeneticsDisease Gene IdentificationGenomicsSystems BiologyNeuromuscular PathologyNovel Missense Mutation