Infantile progressive spinal muscular atrophy is an unusual motor neuron disease.

婴儿型进行性脊肌萎缩症是一种少见的运动神经元性疾病。

Objectives To investigate the clinical features and the onset pattern of spinal muscular atrophy.

目的探讨脊肌萎缩症的临床特点和遗传方式。

Methods The clinical data of 13 infants suffering from infantile spinal muscular atrophy were analysed.

方法分析13例婴儿型脊髓性肌萎缩症患儿的临床资料。

A gene implicated in spinal muscular atrophy showed an association in three populations, but not in yoruba from ibadan, Nigeria.

一个涉及脊髓性肌萎缩病的基因显示出与三个人群有关联但却没有在伊巴丹、尼日利亚、的优鲁巴人身上发现。

Thomson and others have already created iPS cells from people with ALS, Down syndrome, and spinal muscular atrophy, among other disorders.

Thomson等人已经从ALS（肌萎缩侧索硬化症，译者），唐氏综合症，脊髓性肌萎缩等疾病的患者中构建出iPS细胞。

Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

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。

Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.

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。