|
|
|
|
We report a patient with necrotizing encephalomyelopathy(Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation in an A to C transversion in the pyruvate dehydrogenase complex E1x subunit gene.As the E1x subunit is encoded on the X chromosome,this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance. |
|