Anoctamin 5 muscular dystrophy in Denmark: Prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

Journal of Neurology

Volumn 260, Issue 8, 2013, Pages 2084-2093

  Witting, Nanna ^a   Duno, Morten ^a   Petri, Helle ^a   Krag, Thomas ^a   Bundgaard, Henning ^a   Kober, Lars ^a   Vissing, John ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Anoctamin 5; Clinical genetics; Muscle dystrophy; Phenotype

Indexed keywords

ANOCTAMIN 5 PROTEIN; MEROSIN; MUSCLE PROTEIN; MYOSIN HEAVY CHAIN; UNCLASSIFIED DRUG;

ACHILLES TENDON; ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL GENETICS; DENMARK; DIASTOLIC DYSFUNCTION; DISTAL MYOPATHY; DYSPHAGIA; FEMALE; FIRST DEGREE ATRIOVENTRICULAR BLOCK; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEART FUNCTION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE EXTRASYSTOLE; HUMAN; HUMAN TISSUE; INCIDENCE; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; MYALGIA; MYOGLOBINURIA; NEUROMUSCULAR SYSTEM; NUCLEAR MAGNETIC RESONANCE IMAGING; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SECOND DEGREE ATRIOVENTRICULAR BLOCK; TIBIALIS ANTERIOR MUSCLE; TRANSTHORACIC ECHOCARDIOGRAPHY; WEAKNESS; WESTERN BLOTTING;

EID: 84881553837     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-6934-y     Document Type: Article

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