Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation

Neuromuscular Disorders

Volumn 25, Issue 2, 2015, Pages 165-168

  Villa, Chet R ^a   Ryan, Thomas D ^a   Collins, James J ^a   Taylor, Michael D ^a   Lucky, Anne W ^a   Jefferies, John L ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Epidermolysis bullosa with muscular dystrophy; Left ventricular non compaction cardiomyopathy; Plectin

Indexed keywords

CREATINE KINASE; PLEC PROTEIN, HUMAN; PLECTIN;

ADULT; AFRICAN AMERICAN; ARTICLE; CARDIAC IMAGING; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EPIDERMOLYSIS BULLOSA SIMPLEX; EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; FAMILY HISTORY; GENE; GENE MUTATION; GENETIC SCREENING; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICULAR NON COMPACTION CARDIOMYOPATHY; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MEDICAL HISTORY; MOTOR DYSFUNCTION; MUSCLE MASS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MUSCULOSKELETAL SYSTEM EXAMINATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; ONSET AGE; OPHTHALMOPLEGIA; PHARYNGEAL MUSCLE; PHENOTYPE; PLEC1 GENE; PTOSIS; SCREENING TEST; SKIN BIOPSY; SKIN EXAMINATION; VENTRICULAR NONCOMPACTION; YOUNG ADULT; ADOLESCENT; CARDIOMYOPATHIES; COMPLICATION; GENETICS; HEART VENTRICLE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

ADOLESCENT; CARDIOMYOPATHIES; EPIDERMOLYSIS BULLOSA SIMPLEX; HEART VENTRICLES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR DYSTROPHIES; MUTATION; PLECTIN;

EID: 84921029801     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.09.011     Document Type: Article

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