Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA

Author:

Hanna M.G.,Nelson I.P.,Rahman S.,Lane R.J.M.,Land J.,Heales S.,Cooper M.J.,Schapira A.H.V.,Morgan-Hughes J.A.,Wood N.W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference43 articles.

1. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome;Adams;Ann Neurol,1997

2. Sequence and organisation of the human mitochondrial genome;Anderson;Nature,1981

3. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome;Bernes;J Pediatr,1993

4. Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged red fibers (MERRF);Boulet;Am J Hum Genet,1992

5. Rapid evolution of animal mitochondrial DNA;Brown;Proc Natl Acad Sci USA,1979

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