A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the SPAST gene in a heterozygous carrier from an Italian family with autosom...

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Ngā kaituhi matua:	Elvira Sbragia, Andrea Assini, Silvia Calzavara, Paola Carrera, Claudio Marcello Solaro, Emilio Di Maria
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Elsevier 2024-06-01
Rangatū:	eNeurologicalSci
Ngā marau:	Hereditary spastic paraplegia HSP Spastin SPG4 SPAST Genotype
Urunga tuihono:	http://www.sciencedirect.com/science/article/pii/S2405650224000133
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!