Literature DB >> 8174601

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

H Reichmann1, C Angelini.   

Abstract

We report 2 brothers with hypertrophic cardiomyopathy, lipid storage and skeletal mitochondrial myopathy. Biochemical analyses detected complex II (succinate dehydrogenase) deficiency of the respiratory chain. Single fiber analyses using a microphotometer were performed and revealed reduced succinate dehydrogenase activity in all muscle fibers. This report shows the validity of kinetic microphotometric analysis in revealing complex II defects.

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Year:  1994        PMID： 8174601     DOI： 10.1159/000117016

Source DB:  PubMed          Journal:  Eur Neurol        ISSN： 0014-3022            Impact factor:   1.710


  5 in total

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Review 3.  Mitochondrial disease in childhood: nuclear encoded.

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4.  A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle.

Authors:  Anthony C Smith; Alan J Robinson
Journal:  BMC Syst Biol       Date:  2011-06-29

5.  Mitochondrial Reactive Oxygen Species Mediate Cardiac Structural, Functional, and Mitochondrial Consequences of Diet-Induced Metabolic Heart Disease.

Authors:  Aaron L Sverdlov; Aly Elezaby; Fuzhong Qin; Jessica B Behring; Ivan Luptak; Timothy D Calamaras; Deborah A Siwik; Edward J Miller; Marc Liesa; Orian S Shirihai; David R Pimentel; Richard A Cohen; Markus M Bachschmid; Wilson S Colucci
Journal:  J Am Heart Assoc       Date:  2016-01-11       Impact factor: 5.501
  5 in total

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