Article
Genotype and clinical phenotype analysis of a Family with Kennedy disease.
Medicine - 14 Apr 2023
Cai Ben-Chi, Zhong Li-Fan, Liu Yan-Hui, Sui Zhi-Yan, Yang Qiang, Zeng Dan-Ting, Li Xi, Xu Wen-Di, Chen Tao
Abstract excerpt
To investigate the clinical phenotype-genotype correlations of a family with Kennedy disease (KD) and improve our understanding of the disease. KD was confirmed after clinical phenotypic analyses, laboratory tests, polymerase chain reaction assays for cytosine-adenine-guanine (CAG) repeats, and neuro-electrophysiological tests. The disease was assessed using the KD1234 scale and the spinal and bulbar muscular...
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