Characterization of muscular involvement in patients with Duchenne muscular dystrophy by magnetic resonance imaging / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the order and degree of muscular affection in patients with Duchenne muscular dystrophy (DMD) during the course of disease.</p><p><b>METHODS</b>Multiplex ligation dependent probe amplification (MLPA) was used to detect potential mutation of dystrophin gene. Magnetic resonance imaging (MRI) was used to scan the anteromedial aspect of thigh muscles.</p><p><b>RESULTS</b>All of the 6 patients were found to have deletion or duplication mutations. The order of affection has been gluteus maximus, adductor magnus, quadriceps femoris, rectus femoris and biceps muscle of the thigh, while semimembranous muscle, semitendinosus, sartorius muscle and musculus gracilis are selectively affected and in a decreasing order.</p><p><b>CONCLUSION</b>MRI can reflect the order, extent and degree of skeletal muscle involvement in patients with DMD, and can reflect pathological changes of damaged skeletal muscle at each stage, which may provide an important means for patient examination and diagnosis. No apparent correlation between the severity of disease and the nature of mutations was noted.</p>