BAG3-related myofibrillar myopathy in a Chinese family

Clinical Genetics

Volumn 81, Issue 4, 2012, Pages 394-398

  Lee, H C ^a   Cherk, S W ^b   Chan, S K ^b   Wong, S ^a   Tong, T W ^a   Ho, W S ^a   Chan, A Y ^a   Lee, K C ^a   Mak, C M ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b KWONG WAH HOSPITAL   (Hong Kong)

Author keywords

BAG3; Chinese; Myofibrillar myopathy

Indexed keywords

BAG 1 PROTEIN; CREATINE KINASE; GENOMIC DNA;

ACHILLES TENDON; ARM WEAKNESS; ARTICLE; ASTHMA; CAPILLARY ELECTROPHORESIS; CARDIOMYOPATHY; CASE REPORT; CHILD; CLIMBING; CREATINE KINASE BLOOD LEVEL; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFORMED CONSENT; INTRON; LIMB WEAKNESS; LUNG FUNCTION TEST; MICROSCOPY; MISSENSE MUTATION; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MYELIN SHEATH; MYOFIBRILLAR MYOPATHY; MYOPATHY; NERVE CONDUCTION; NEUROPATHY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QT PROLONGATION; RIGIDITY; SCOLIOSIS; SEQUENCE ALIGNMENT; WALKING DIFFICULTY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; MYOFIBRILS;

EID: 84863283173     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01659.x     Document Type: Article

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