BRIEF REPORT - DELETION OF THE DYSTROPHIN MUSCLE-PROMOTER REGION ASSOCIATED WITH X-LINKED DILATED CARDIOMYOPATHY

被引:330
作者
MUNTONI, F
CAU, M
GANAU, A
CONGIU, R
ARVEDI, G
MATEDDU, A
MARROSU, MG
CIANCHETTI, C
REALDI, G
CAO, A
MELIS, MA
机构
[1] IST NEUROPSICHIATRIA INFANTILE,CAGLIARI,ITALY
[2] IST CLIN & BIOL ETA EVOLUT,CAGLIARI,ITALY
[3] IST CLIN MED GEN & TERAPIA MED,SASSARI,ITALY
关键词
D O I
10.1056/NEJM199309233291304
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Several forms of hereditary dilated cardiomyopathy have been identified; with the exception of those resulting from mutations of mitochondrial DNA,1,2 no pathological finding can be used to differentiate the conditions, so their distinction depends on the pattern of transmission. Autosomal recessive, autosomal dominant, and matrilinear forms have been reported; several families with X-linked dilated cardiomyopathy have also been described3–5. X-linked dilated cardiomyopathy is a progressive myocardial disease presenting as congestive heart failure in teenage boys without clinical signs of skeletal myopathy5. No information is available on the pathogenetic defect involved in this disorder, although cardiomyopathy is… © 1993, Massachusetts Medical Society. All rights reserved.
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页码:921 / 925
页数:5
相关论文
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