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Molecular genetic characterization of an X-linked form of Leigh's syndrome.
Department of Biochemistry, University of Oxford, UK.
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.
PMID: 8498846 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Mitochondria and dystonia: the movement disorder connection?
Wallace DC, Murdock DG.
Proc Natl Acad Sci U S A. 1999 Mar 2; 96(5):1817-9.
[Proc Natl Acad Sci U S A. 1999]
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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L.
Am J Hum Genet. 1998 Dec; 63(6):1598-608.
[Am J Hum Genet. 1998]
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Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH.
Am J Hum Genet. 1995 Mar; 56(3):558-69.
[Am J Hum Genet. 1995]
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