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

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.