Clinical presentation of mitochondrial disorders in childhood

Author:

Munnich A.,Rötig A.,Chretien D.,Cormier V.,Bourgeron T.,Bonnefont J. -P.,Saudubray J. -M.,Rustin P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG (1991) Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.Am J Hum Genet 48: 481–485.

2. Bourgeron T, Rustin P, Chrétien D, et al (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.Nature Genet 11: 144–149.

3. Chabrol B, Mancini J, Chrétien D, Rustin P, Munnich A, Pinsard N (1994) Valproate-induced hepatic failure in a case of cytochromec-oxidase deficiency.Eur J Pediatr 153: 133–135.

4. Cormier V, Rustin P, Bonnefont JP, et al (1991) Hepatic failure in neonatal-onset disorders of oxidative phosphorylation.J Pediatr 119: 951–954.

5. Cormier-Daire V, Bonnefont JP, Rustin P, et al (1994) Deletion-duplication of the mitochondrial DNA presenting as chronic diarrhea with villous atrophy.J Pediatr 124: 63–70.

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