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Molecular genetic characterization of an X‐linked form of Leigh's syndrome
Author(s) -
Matthews P. M.,
Marchington D. R.,
Squier M.,
Land J.,
Brown R. M.,
Brown G. K.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410330616
Subject(s) - transversion , genetics , leigh disease , pyruvate dehydrogenase complex , x chromosome , gene , protein subunit , biology , mitochondrial dna , enzyme , biochemistry , mutation
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.