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- W2393447130 abstract "Objective To study the clinical,pathological and genetic characteristics of a Chinese patient with Kennedy disease(KD).Methods The clinical,electrophysiological and pathological data of the patient were analysed.Blood samples were collected from the patient and his 4 siblings.Mutation analysis of AR gene was made by means of DNA-direct sequencing.Results The patient mainly presented quadriplegia and accompanied with bulbar paralysis,musle atrophy,sensory disturbance and gynaecomastia,blood fat and crestase increased,Electroneurogram demonstrated sense and motor conductive velocity slowing and electromyogram demonstrated ventricornual motor neurons affecting.Atrophy muscle fibers were found by pathology examination.CAG repeat number of the first exon of AR gene of the patient is 43,but the CAG repeat numbers of his siblings were from 19 to 23.Conclusions A Chinese KD patient is found by AR gene mutation analysis.The symptoms of KD patient are not specifical,electroneurogram and pathology examination are benefical to the diagnosis of KD.AR gene mutation analys is the reliable method for KD diagnosis." @default.
- W2393447130 created "2016-06-24" @default.
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- W2393447130 date "2011-01-01" @default.
- W2393447130 modified "2023-09-25" @default.
- W2393447130 title "Clinical,pathological and genetic analysis of a Chinese patient with Kennedy disease" @default.
- W2393447130 hasPublicationYear "2011" @default.
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