Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
- 31 October 1993
- journal article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 123 (4) , 598-602
- https://doi.org/10.1016/s0022-3476(05)80962-x
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Switching of bovine cytochromec oxidase subunit VIa isoforms in skeletal muscle during developmentFEBS Letters, 1991
- Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndromeGenomics, 1991
- Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non‐invasive diagnosis of mitochondrial myopathyClinical Genetics, 1991
- Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.Journal of Clinical Investigation, 1990
- Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndromePublished by Elsevier ,1990
- mtDNA deletions in Kearns‐SayreNeurology, 1990
- Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndromeNeurology, 1990
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre SyndromeNew England Journal of Medicine, 1989
- A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNAScience, 1989
- Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antiseraEuropean Journal of Biochemistry, 1985