方法分析13例婴儿型脊髓性肌萎缩症患儿的临床资料。
Methods The clinical data of 13 infants suffering from infantile spinal muscular atrophy were analysed.
目的探讨婴儿型脊髓性肌萎缩症的临床、电生理特点及基因诊断的临床意义。
Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
应用推荐