Molecular genetic characterization of an X-linked form of Leigh's syndrome.
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Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK
Molecular genetic characterization of an X-linked form of Leigh's syndrome.
Ann Neurol. 1993 Jun;33(6):652-5.
- PubMed ID
- 8498846 [ View in PubMed]
- Abstract
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.