%0 Journal Article
%T Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.
%A Chi Y
%A Qiao Y
%A Ma Y
%J Neurol Sci
%V 0
%N 0
%D 2024 Jul 8
%M 38972959
%F 3.83
%R 10.1007/s10072-024-07651-0
%X 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.