Document Detail

A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.
MedLine Citation:
PMID:  23036309     Owner:  NLM     Status:  Publisher    
Defects in the desmin gene have been identified in patients with cardiac and skeletal myopathy characterized by sarcoplasmic accumulation of desmin-positive deposits and electron dense granulofilamentous aggregates. We describe a desminopathy family with unusual clinical features of complete atrioventricular block and mild myopathy. The atrioventricular block can be found in each of the affected members sparing of the detectable cardiac structural abnormalities through echocardiogram. A novel heterozygous deletion-insertion mutation (c.1045-1063 del/G ins), deleting 7 amino acid (Met349-Arg355) and inserting 1 amino acid (Gly349) in a highly conserved alpha-helical 2B domain of desmin, has been identified. The results of this study indicate that atrioventricular conduction block without cardiac structural abnormalities may be an intrinsic feature of disease associated with specific desmin mutation. Furthermore atrioventricular conduction block may be an exclusive clinical manifestation and a major cause of disability and death in some patients with desmiopathy.
Lingling Cao; Daojun Hong; Min Zhu; Xiaobin Li; Hui Wan; Kui Hong
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-5
Journal Detail:
Title:  Clinical neuropathology     Volume:  -     ISSN:  0722-5091     ISO Abbreviation:  Clin. Neuropathol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8214420     Medline TA:  Clin Neuropathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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