Article
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2021
Estiar Mehrdad A, Yu Eric, Haj Salem Ikhlass, Ross Jay P, Mufti Kheireddin, Akçimen Fulya, Leveille Etienne, Spiegelman Dan, Ruskey Jennifer A, Asayesh Farnaz, Dagher Alain, Yoon Grace, Tarnopolsky Mark, Boycott Kym M, Dupre Nicolas, Dion Patrick A, Suchowersky Oksana, Trempe Jean-Francois, Rouleau Guy A, Gan-Or Ziv
Abstract excerpt
BACKGROUND: Although the typical inheritance of spastic paraplegia 7 is recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant hereditary spastic paraplegia (HSP). OBJECTIVES: We aimed to conduct an exome-wide genetic analysis on a large Canadian cohort of HSP patients and controls to examine the association of SPG7 and HSP. METHODS: We analyzed 585 HSP patients from 372...
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