BAG3 myofibrillar myopathy presenting with cardiomyopathy

Neuromuscular Disorders

Volumn 25, Issue 5, 2015, Pages 418-422

  Konersman, Chamindra G ^a,b   Bordini, Brett J ^a   Scharer, Gunter ^a   Lawlor, Michael W ^a   Zangwill, Steven ^a   Southern, James F ^a   Amos, Louella ^a   Geddes, Gabrielle C ^a   Kliegman, Robert ^a   Collins, Michael P ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

BAG3; Bcl 2 associated athanogene 3; Myofibrillar myopathy; Neuropathy; Restrictive cardiomyopathy

Indexed keywords

CREATINE KINASE; RAPAMYCIN; TACROLIMUS; APOPTOSIS REGULATORY PROTEIN; BAG3 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ARTICLE; ARTIFICIAL VENTILATION; BAG3 GENE; CARDIOMYOPATHY; CASE REPORT; DEMYELINATION; DYSPNEA; EXOME; GENE; GENE MUTATION; GENETIC SCREENING; HEART MUSCLE BIOPSY; HEART TRANSPLANTATION; HETEROZYGOSITY; HUMAN; MALE; MYOFIBRILLAR MYOPATHY; MYOPATHY; NERVE BIOPSY; NERVE CONDUCTION; PARESTHESIA; POLYNEUROPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE; RIGIDITY; SPINE DISEASE; THORAX PAIN; WALKER; WALKING DIFFICULTY; WEAKNESS; YOUNG ADULT; CARDIOMYOPATHIES; COMPLICATION; GENETICS; INNERVATION; MISSENSE MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE; SURAL NERVE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; APOPTOSIS REGULATORY PROTEINS; CARDIOMYOPATHIES; HEART TRANSPLANTATION; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; NEURAL CONDUCTION; SURAL NERVE; YOUNG ADULT;

EID: 84927912558     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.01.009     Document Type: Article

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