Literature DB >> 8498846

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

P M Matthews1, D R Marchington, M Squier, J Land, R M Brown, G K Brown.   

Abstract

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.

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Year:  1993        PMID： 8498846     DOI： 10.1002/ana.410330616

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  13 in total

1.  Mitochondria and dystonia: the movement disorder connection?

Authors:  D C Wallace; D G Murdock
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

Review 2.  Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors:  H H Dahl
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

3.  Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome.

Authors:  R M Brown; G K Brown
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

Authors:  E Naito; M Ito; I Yokota; T Saijo; J Matsuda; H Osaka; S Kimura; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

5.  A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Authors:  Sze Chern Lim; Katherine R Smith; David A Stroud; Alison G Compton; Elena J Tucker; Ayan Dasvarma; Luke C Gandolfo; Justine E Marum; Matthew McKenzie; Heidi L Peters; David Mowat; Peter G Procopis; Bridget Wilcken; John Christodoulou; Garry K Brown; Michael T Ryan; Melanie Bahlo; David R Thorburn
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025

6.  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Authors:  J Loeffen; J Smeitink; R Triepels; R Smeets; M Schuelke; R Sengers; F Trijbels; B Hamel; R Mullaart; L van den Heuvel
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

Authors:  M Ito; E Naito; I Yokota; E Takeda; J Matsuda; M Hirose; H Sejima; H Aiba; H Hojo; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  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.

Authors:  K Chun; N MacKay; R Petrova-Benedict; A Federico; A Fois; D E Cole; E Robertson; B H Robinson
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

Review 9.  Human alcohol-related neuropathology.

Authors:  Suzanne M de la Monte; Jillian J Kril
Journal:  Acta Neuropathol       Date:  2013-12-27       Impact factor: 17.088

10.  Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Authors:  M Gerards; W Sluiter; B J C van den Bosch; L E A de Wit; C M H Calis; M Frentzen; H Akbari; K Schoonderwoerd; H R Scholte; R J Jongbloed; A T M Hendrickx; I F M de Coo; H J M Smeets
Journal:  J Med Genet       Date:  2009-06-18       Impact factor: 6.318
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