Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Neuromuscular Disorders

Volumn 20, Issue 7, 2010, Pages 438-442

  Odgerel, Zagaa ^a   Sarkozy, Anna ^b   Lee, Hee Suk ^a   McKenna, Caoimhe ^b   Rankin, Julia ^c   Straub, Volker ^b   Lochmüller, Hanns ^b   Paola, Francalanci ^d   D'Amico, Adele ^d   Bertini, Enrico ^d   Bushby, Kate ^b   Goldfarb, Lev G ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Bcl 2 associated athanogene 3 (BAG3); Cardiomyopathy; Giant axons; Limb girdle muscular dystrophy; Myofibrillar myopathy

Indexed keywords

BCL 2 ASSOCIATED ATHANOGENE 3 PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG; APOPTOSIS REGULATORY PROTEIN; BAG3 PROTEIN, HUMAN; LEUCINE; PROLINE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; DISEASE TRANSMISSION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GIANT AXON; HUMAN; INHERITANCE; MALE; MOSAICISM; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; ACTIN FILAMENT; FAMILY HEALTH; GENETICS; GENOTYPE; MUSCLE DISEASE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; SCANNING ELECTRON MICROSCOPY; SURAL NERVE; ULTRASTRUCTURE; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; LEUCINE; MALE; MICROFILAMENTS; MICROSCOPY, ELECTRON, SCANNING; MUSCULAR DISEASES; MUTATION; PHENOTYPE; PROLINE; SURAL NERVE; YOUNG ADULT; ACTIN CYTOSKELETON; APOPTOSIS REGULATORY PROTEINS;

EID: 77954034456     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.05.004     Document Type: Article

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