A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene

Neuropathology and Applied Neurobiology

Volumn 37, Issue 3, 2011, Pages 257-270

  Hong, D ^a   Wang, Z ^a   Zhang, W ^a   Xi, J ^b   Lu, J ^b   Luan, X ^a   Yuan, Y ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

Cardiomyopathy; Desmin; Desmin related myopathy; Desminopathy; Myofibrillar myopathy

Indexed keywords

DESMIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOMYOPATHY; CHILD; CHINESE; CLINICAL ARTICLE; DESMINOPATHY; DISEASE COURSE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC TRANSFECTION; GEOGRAPHIC DISTRIBUTION; HEART CONDUCTION; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; MALE; MUSCLE BIOPSY; MUTANT; MYOPATHY; POPULATION GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TISSUE STRUCTURE;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHIES; DESMIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOCARDIUM; PEDIGREE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 79951792793     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/j.1365-2990.2010.01112.x     Document Type: Article

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