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Ann Neurol. 1993 Jun;33(6):652-5.

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

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  • 1Department of Biochemistry, University of Oxford, UK.


We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation is an A to C transversion in the pyruvate dehydrogenase complex E1 alpha subunit gene. As the E1 alpha subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance.

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