Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 592-596

  Hollingsworth, Kieren G ^a   Gorman, Grainne S ^a   Trenell, Michael I ^a   McFarland, Robert ^a   Taylor, Robert W ^a   Turnbull, Douglass M ^a   MacGowan, Guy A ^a   Blamire, Andrew M ^a   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Cardiomyopathy; Mitochondrial disease; MRI; Tagging

Indexed keywords

ACETYLSALICYLIC ACID; ADENINE; CARBAMAZEPINE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GUANINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INSULIN; METFORMIN; MITOCHONDRIAL DNA; VALPROIC ACID;

ADULT; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE SEVERITY; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; FEMALE; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENETIC PARAMETERS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; MUTATION LOAD; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY CHAIN;

ADULT; CARDIOMYOPATHIES; DNA, MITOCHONDRIAL; ELECTROCARDIOGRAPHY; FEMALE; HEART RATE; HEART VENTRICLES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; TORSION ABNORMALITY;

EID: 84862232361     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.03.001     Document Type: Article

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