The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy

Clinical Neuropathology

Volumn 34, Issue 2, 2015, Pages 89-95

  Gal, Aniko ^a   Inczedy Farkas, Gabriella ^a   Pal, Endre ^b   Remenyi, Viktoria ^a   Bereznai, Benjamin ^a   Geller, Laszlo ^a   Szelid, Zsolt ^a   Merkely, Bela ^a   Molnar, Maria Judit ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b UNIVERSITY OF PÉCS   (Hungary)

Author keywords

Cardiomyopathy; Centronuclear myopathy; Dynamin 2 mutation; Mitochondrial DNA (mtDNA) deletion; Repetitive discharge

Indexed keywords

COLECALCIFEROL; CREATINE KINASE; CYTOCHROME C OXIDASE; DYNAMIN II; FOLIC ACID; IRON; LACTIC ACID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MITOCHONDRIAL DNA; TRIACYLGLYCEROL; DNM2 PROTEIN, HUMAN; DYNAMIN;

ACTION POTENTIAL; ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CENTRONUCLEAR MYOPATHY; DISEASE SEVERITY; DYSPNEA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROPHYSIOLOGICAL PROCEDURES; ELECTROPHYSIOLOGY; EXTRAOCULAR MUSCLE; FATIGUE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART CATHETERIZATION; HEART FAILURE; HEART LEFT BUNDLE BRANCH BLOCK; HUMAN; HUMAN TISSUE; HYPERTENSION; LUNG EMBOLISM; MIDDLE AGED; MUSCLE BIOPSY; MUSCLE RELAXATION; MUSCLE RIGIDITY; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; NEUROLOGIC EXAMINATION; NEUROPATHY; PACEMAKER; PARESIS; PATHOGENESIS; PRIORITY JOURNAL; PTOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS; SYMPTOM; VASTUS LATERALIS MUSCLE; GENE DELETION; GENETICS; MUTATION; MYOPATHY; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; CARDIOMYOPATHIES; DNA, MITOCHONDRIAL; DYNAMINS; ELECTROPHYSIOLOGY; FEMALE; HUMANS; MIDDLE AGED; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84925400368     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/NP300789     Document Type: Article

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