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Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene.

作者信息

Rossi Malco, Medina Escobar Alex, Radrizzani Martin, Tenembaum Silvia, Perandones Claudia, Merello Marcelo

机构信息

Movement Disorders Section Neuroscience Department Raul Carrea Institute for Neurological Research (FLENI) Buenos Aires Argentina.

Laboratory of Neuro and Molecular Cytogenetic (CONICET) School of Sciences and Technology CESyMA National University of San Martin Buenos Aires Argentina.

出版信息

Mov Disord Clin Pract. 2016 Jul 8;4(2):266-269. doi: 10.1002/mdc3.12397. eCollection 2017 Mar-Apr.

Abstract
摘要

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本文引用的文献

1
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.
2
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Nat Rev Neurol. 2015 Jul;11(7):414-24. doi: 10.1038/nrneurol.2015.86. Epub 2015 Jun 23.
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Complex hyperkinetic movement disorders associated with POLG mutations.
Mov Disord. 2010 Oct 30;25(14):2472-5. doi: 10.1002/mds.23307.
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Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter.
Biochim Biophys Acta. 2007 Jun;1771(6):663-76. doi: 10.1016/j.bbalip.2007.02.012. Epub 2007 Mar 6.
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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83.
10
Patient homozygous for a recessive POLG mutation presents with features of MERRF.
Neurology. 2003 Dec 23;61(12):1811-3. doi: 10.1212/01.wnl.0000098997.23471.65.

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