Article
Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy.
PloS one - 1 Jan 2015
Ni Wang, Chen Sheng, Qiao Kai, Wang Ning, Wu Zhi-Ying
Abstract excerpt
Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease characterized by slowly progressive weakness and atrophy of proximal limbs and bulbar muscles. To assess the genotype-phenotype correlation in Chinese patients, we identified 155 patients with SBMA and retrospectively examined available data from laboratory tests and neurophysiological analyses. Correlations between genotype...
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