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Mitochondrial DNA deletion diagnosed by analysis of an endomyocardial biopsy specimen from a patient with Kearns-Sayre syndrome and complete heart block

Defects of mitochondrial DNA have been found at necropsy in the myocardium of patients with Kearns-Sayre syndrome. A patient with characteristics typical of Kearns-Sayre syndrome and a complete heart block is described. Southern blot analysis showed a deletion of 3·3 kb in the mitochondrial DNA in a...

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Autors principals: Remes, Anne M, Hassinen, Ilmo E, Majamaa, Kari, Peuhkurinen, Keijo J
Format: Artigo
Idioma:Inglês
Publicat: 1992
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1025142/
https://ncbi.nlm.nih.gov/pubmed/1449926
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