Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy].

To explore the correlation between genotypes and phenotypes in Chinese patients with pseudohypertrophic muscular dystrophy. Patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) were diagnosed clinically. Multiplex ligation-dependent probe amplification (MLPA) were performed to detect potential DMD gene mutations. The results were analyzed statistically. Among 280 patients, 238(85.0%) were diagnosed with DMD, 35(12.50%) were diagnosed with BMD and 7(2.5%) were diagnosed with intermediate muscular dystrophin (IMD). Among these, 252(92.31%) were in-frame mutations, and 21(7.69%) were out-of-frame mutations. Twelve patients with DMD have carried in-frame mutations, 9 with BMD have carried frame-shift mutations, and 7 IMD patients have carried frame-shift mutation. Most of the genotypes and phenotypes of DMD have complied with the reading-frame hypothesis. Patients with BMD with frame-shift mutations may facilitate understanding of the pathogenesis of DMD, and provide a theoretical basis for clinical therapy.

Citation

Shan-wei Feng, Ying-yin Liang, Ji-qing Cao, Xin-ming Song, Cheng Zhang. Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2012 Dec;29(6):653-7

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PMID: 23225043

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