A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.docVIP

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2017-05-15 发布于上海
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A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.doc

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

Obara-Moszynskaetal.BMCPediatrics2013,13:27 /1471-2431/13/27 CASE REPORT OpenAccess AnovelmitochondrialDNAdeletioninapatient withKearns-Sayresyndrome:alate-onsetofthe fatalcardiacconductiondeficitand cardiomyopathyaccompanyinglong-termrGH treatment MonikaObara-Moszynska1*,JaroslawMaceluch1,WaldemarBobkowski2,ArturBaszko3,OskarJaremba2, MaciejRKrawczynski4andMarekNiedziela1 Abstract Background:Kearns-SayreSyndrome(KSS)isamultisystemdisordercausedbyadysfunctionoftheoxidative phosphorylationsystemwithinmitochondria.MitochondrialDNA(mtDNA)rearrangementsareakeymolecular featureofthisdisease,whichma

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A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.docVIP