HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

已完结 10 由 jg 发布于 2024/12/11 21:19:06

DOI:10.1093/brain/awae371
作者：Lein N H Dofash, Lee B Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi, Rita J Serrano, Rachel Templin, Georg Ramm, Alison Rodger, Joel Haywood, Evan Ingley, Joshua S Clayton, Rho
文献类型：期刊论文
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Oxford University Press

Abstract：Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficienc

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