Novel SPG20 mutation in an extended family with Troyer syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-017-0104-3
Abstract: Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to… read more here.
Keywords: family; novel spg20; troyer syndrome; mutation ... See more keywords
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the New York Academy of Sciences"
DOI: 10.1111/nyas.14229
Abstract: Troyer syndrome is an autosomal recessive disease characterized by spastic paralysis, dysarthria, distal amyotrophy, and short stature. Recently, two siblings (an older brother and a younger sister) were admitted to our hospital for the chief… read more here.
Keywords: syndrome family; spg20 compound; troyer syndrome; heterozygous mutations ... See more keywords