MOLECULAR-GENETIC CHARACTERIZATION OF AN X-LINKED FORM OF LEIGHS SYNDROME

Authors
MATTHEWS PM MARCHINGTON DR SQUIER M LAND J BROWN RM BROWN GK
Citation
Pm. Matthews et al., MOLECULAR-GENETIC CHARACTERIZATION OF AN X-LINKED FORM OF LEIGHS SYNDROME, Annals of neurology, 33(6), 1993, pp. 652-655
Citations number
10
Categorie Soggetti
Clinical Neurology",Neurosciences
Journal title
Annals of neurology → ACNP
ISSN journal
03645134
Volume
33
Issue
6
Year of publication
1993
Pages
652 - 655
Database
ISI
SICI code
0364-5134(1993)33:6<652:MCOAXF>2.0.ZU;2-S
Abstract
We report a patient with necrotizing encephalomyelopathy (Leigh's synd rome) associated with a deficiency of pyruvate dehydrogenase complex a ctivity. The underlying mutation is an A to C transversion in the pyru vate dehydrogenase complex E1alpha subunit gene. As the E1alpha subuni t is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheri tance.