Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
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- 作者：Simone Olgiati ; Matej Skorvanek ; Marialuisa Quadri ; Michelle Minneboo ; Josja Graafland ; Guido J. Breedveld ; Ramon Bonte ; Zeliha Ozgur ; Mirjam C.G.N. van den Hout ; Kees Schoonderwoerd ; Frans W. Verheijen ; Wilfred F.J. van IJcken ; Hsin Fen Chien ; Egberto Reis Barbosa ; Hsiu-Chen Chang ; Szu-Chia Lai ; Tu-Hsueh Yeh ; Chin-Song Lu ; Yah-Huei Wu-Chou ; Anneke J.A. Kievit ; Vladimir Han ; Zuzana Gdovinova ; Robert Jech ; Robert M.W. Hofstra ; George J.G. Ruijter ; Wim Mandemakers and Vincenzo Bonifati
- 刊名：Movement Disorders
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：31
- 期：7
- 页码：1041-1048
- 全文大小：3616K
- ISSN：1531-8257
文摘
ECHS1 encodes a mitochondrial enzyme involved in the degradation of essential amino acids and fatty acids. Recently, ECHS1 mutations were shown to cause a new severe metabolic disorder presenting as Leigh or Leigh-like syndromes. The objective of this study was to describe a family with 2 siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations.