Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the correlation between genotypes and phenotypes in Chinese patients with pseudohypertrophic muscular dystrophy.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>