Abstract：
Spinal muscular atrophy (SMA) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy. Description of two novel SMN1 mutations (patient1: c.683T > A, p.Leu228Ter; patient2: c.347 T > C, p.Ile116 Thr). We reported two patients with SMN1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases. Two SMA patients showed progressive proximal lower limb weakness and milder clinical symptom. In a total of 22 cases, the most commonly observed SMN1 gene alteration was missense mutation (55%), followed by splicing defect (27%), nonsense (9%) and frameshift (9%). We discuss the possible decisive role of these intragenic mutations in the phenotypic results, which enriched the SMN 1 fine mutation database.
摘要：
脊髓性肌萎缩症（SMA）是一种罕见的神经肌肉疾病，其特征是运动神经元退化，导致对称肌肉无力和萎缩。两个新的SMN1突变的描述（患者1：c.683T>A，p.Leu228Ter；患者2：c.347T>C，p.Ile116Thr).我们报道了两名具有临床特征的SMN1突变患者，并对以前报道的22例病例进行了文献综述。两名SMA患者表现为进行性近端下肢无力，临床症状较轻。在总共22个案例中，最常见的SMN1基因改变是错义突变（55％），其次是拼接缺陷(27%)，胡说八道(9%)和移码(9%)。我们讨论了这些基因内突变在表型结果中可能的决定性作用，丰富了SMN1精细突变数据库。
