AI Article Synopsis
- Spinal muscular atrophy (SMA) is a rare neuromuscular disease resulting from the degeneration of motor neurons, leading to muscle weakness and atrophy.
- This study describes two novel mutations in the SMN1 gene found in two patients, along with a review of 22 previously reported cases with various types of mutations.
- The findings highlight that most SMN1 gene alterations are missense mutations, while discussing how these mutations may influence the observed clinical symptoms in patients.
Article 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.
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| http://dx.doi.org/10.1007/s10072-024-07651-0 | DOI Listing |
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