Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Autor: Lee, JYW, Hsu, C-K, Michael, M, Nanda, A, Liu, L, McMillan, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, SC, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H-Y, Lin, T-C, Akiyama, M, Lee, JYY, McLean, WHI, Simpson, MA, Parsons, M, McGrath, JA

Publikováno v: Lee, J Y W, Hsu, C K, Michael, M, Nanda, A, Liu, L, McMillan, J R, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, S C, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H Y, Lin, T C, Akiyama, M, Lee, J Y Y, McLean, W H I, Simpson, M A, Parsons, M & McGrath, J A 2017, ' Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23 ', American Journal of Human Genetics, vol. 100, no. 2, pp. 364-370 . https://doi.org/10.1016/j.ajhg.2017.01.014

SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an

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