Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

European Journal of Medical Genetics

Volumn 55, Issue 10, 2012, Pages 552-556

  Wortmann, Saskia B ^a   Champion, Michael P ^b   van den Heuvel, Lambert ^a   Barth, H ^c   Trutnau, B ^d   Craig, Kate ^e   Lammens, Martin ^a   Schreuder, Michiel F ^a   Taylor, Robert W ^e   Smeitink, Jan A M ^a   Wevers, Ron A ^a   Rodenburg, Richard J ^a   Morava, Eva ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c Praxis für Kinder und Jugendkardiologie   (Germany)

^d KfH Nierenzentrum für Kinder und Jugendliche   (Germany)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

3 Methylglutaconic aciduria; CK elevation; Lipid myopathy; MELAS syndrome; Mitochondriopathy; Muscular hypotonia

Indexed keywords

BICARBONATE; CREATINE KINASE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; POLYSTYRENESULFONATE SODIUM; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SODIUM CHLORIDE; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DISEASE COURSE; ECHOCARDIOGRAPHY; ELECTROLYTE DISTURBANCE; FAMILY HISTORY; FEMALE; GENE MUTATION; HETEROPLASMY; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; KIDNEY TUBULE ACIDOSIS; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENOME; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEWBORN; PALLIATIVE THERAPY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; TUBULAR DYSFUNCTION;

ACIDOSIS, LACTIC; ACIDOSIS, RENAL TUBULAR; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CREATINE KINASE; DNA, MITOCHONDRIAL; FEMALE; GENES, MITOCHONDRIAL; HUMANS; INFANT; MALE; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; RNA, TRANSFER, LEU; SYNDROME;

EID: 84866427227     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.06.002     Document Type: Article

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