Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

Wang Ni, Sheng Chen, Kai Qiao, Ning Wang and Zhi-Ying Wu

PLOS ONE, 2015, vol. 10, issue 3, 1-9

Abstract: 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 and phenotype were analyzed. There was an inverse correlation between the length of CAG repeats and age at first muscle weakness (p

Date: 2015
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0122279

DOI: 10.1371/journal.pone.0122279

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