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《Chinese Journal of Neuromedicine》 2007-11
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Investigation on the value of electroretinogram for carrier detection of Duchenne/Becker muscular dystrophy

YANG Yu ZHANG Cheng ZHONG Yue-gui WU De-zheng JIANG Fu-tian.Department of Neurology,the Third Affiliated Hospital,Sun Yat-sen University of Medical Sciences,Guangzhou 510630,China  
Objective To investigate visual electrophysiological changes in Duchenne/Becker muscular dystrophy carriers by electroretinogram(ERG)and determine the diagnostic value of ERG for DMD/BMD carriers.Methods As for the 22 DMD/BMD families with definite types of gene mutation,the female family members were allocated into definite carriers and non-carriers of DMD/BMD by quantitative polymerase chain reaction(PCR)assay combined with pedigree analysis.Ophthalmologic examination and electroretinography were performed on the DMD/BMD patients and their female family members and then the results were recorded according to the international ERG standard.Results Seventeen out of 22 cases were found to have typical abnormal ERG changes;5 out of 11 definite carriers had ERG abnormalities,while ERG of the 14 non-carriers was normal,and there were no overlap between the two groups.Conclusion ERG is very sensitive and specific to the diagnosis of DMD/BMD,which also has clinical significance for the diagnosis of carriers.
【CateGory Index】: R746.2
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1 YANG Yu, ZHANG Cheng, WU Dezheng, et al Department of Neurology, the First Affiliated Hospital, Sun Yat-Sen University of Medical Sciences, Guangzhou 510080, China;Characteristics of electroretinogram in patients with Duchenne and Becker muscular dystrophy[J];Chinese Journal of Neurology;2000-06
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