Clinical, biochemical, and molecular analysis of a maternally inherited case of Leight syndrome (MILS) associated with the mtDNA T8993G point mutation-Reference-Cited by-同舟云学术

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leight syndrome (MILS) associated with the mtDNA T8993G point mutation

Published:1995-11 Issue:6 Volume:18 Page:682-688
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Degoul F.,Diry M.,Rodriguez D.,Robain O.,François D.,Ponsot G.,Marsac C.,Desguerre I.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF02436757

Reference16 articles.

1. Ciafaloni E, Santorelli F, Shanske S, et al (1993) Maternally inherited Leigh syndrome.J Pediatr 122: 419–422.

2. Degoul F, Nelson I, Lestienne P, et al (1991a) Deletions of human mitochondrial DNA in Kearns—Sayre syndrome and ocular myopathies; genetic, biochemical and morphological studies.J Neurol Sci 101: 168–177.

3. Degoul F, Nelson I, Amselem S, et al (1991b) Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.Nucleic Acids Res 19: 493–496.

4. DeVivo DC, Haymond MW, Obert KA, Nelson JS, Pagliara AS (1979) Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).Ann Neurol 6: 483–494.

5. DeVries DD, Van Egelen BGM, Gabreëls FJM, Ruitenbeek W, Van Oost BA (1993) A second missese mutation in the mitochondrial ATPase 6 gene in Leigh syndrome.Ann Neurol 34: 410–412.

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