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<meta name="DC.Description" content="Summary: Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations." />
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<meta name="DC.Contributor" content="Roberta Biancheri" />
<meta name="DC.Contributor" content="Claudio Bruno" />
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<meta name="DC.Contributor" content="Angela Calvi" />
<meta name="DC.Contributor" content="Alice Pessagno" />
<meta name="DC.Contributor" content="Paolo Tortori-Donati" />
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<meta name="og-description" property="og:description" content="Summary: Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations." />
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      <h1 class="highwire-cite-title" id="page-title">Leigh Syndrome with COX Deficiency and <em>SURF1</em> Gene Mutations: MR Imaging Findings</h1>  
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">June 2003,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">24 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(6) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1188-1191; </span></div>
  
  
  
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