Molecular genetic characterization of an X‐linked form of Leigh's syndrome
- 1 June 1993
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 33 (6), 652-655
- https://doi.org/10.1002/ana.410330616
Abstract
We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying muration is an A to C transversion in the pyruvate dehydrogenase complex Elα subnit gene. As the Elα subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X‐linked inheritance.Keywords
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