A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy

Clinical Neuropathology

Volumn 32, Issue 1, 2013, Pages 9-15

  Cao, Lingling ^a,b   Hong, Daojun ^a   Zhu, Min ^a   Li, Xiaobin ^a   Wan, Hui ^a   Hong, Kui ^a  

^a NANCHANG UNIVERSITY   (China)

^b Department of Oncology   (China)

Author keywords

Atrioventricular conduction block; Deletion insertion; Desmin; Desminopathy; Myofibrillar myopathy

Indexed keywords

CREATINE KINASE; DESMIN;

ADULT; ANATOMICAL CONCEPTS; ARTICLE; ARTIFICIAL HEART PACEMAKER; ATRIOVENTRICULAR CONDUCTION; CASE REPORT; COMPLETE HEART BLOCK; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAM; FAINTNESS; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; MUSCLE FATIGUE; MYOPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ATRIOVENTRICULAR BLOCK; CARDIOMYOPATHY; FEMALE; GENETICS; INDEL MUTATION; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE;

ADULT; ATRIOVENTRICULAR BLOCK; BASE SEQUENCE; CARDIOMYOPATHIES; DESMIN; FEMALE; HETEROZYGOTE; HUMANS; INDEL MUTATION; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; POLYMERASE CHAIN REACTION;

MLCS; MLOWN;

EID: 84876578686     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/NP300514     Document Type: Article

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