Article
Preimplantation Genetic Testing for Spastic Paraplegia Type 3.
Advances in experimental medicine and biology - 1 Jan 2021
Yapijakis Christos, Gintoni Iphigenia, Voumvourakis Costas, Chrousos George
Abstract excerpt
INTRODUCTION: Spastic paraplegia type 3 (SPG3) is a common autosomal dominant neurogenetic disease, presenting during childhood with symptoms of mildly progressive spasticity and weakness of the lower limbs. SPG3 develops due to mutations of the ATL1 gene that encodes atlastin-1, a GTPase crucial for the function of dendrites of corticospinal neurons. Here we present a case of preimplantation genetic testing for...
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