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Neurological Sciences
Erschienen in:

08.07.2024 | Review Article

Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review

verfasst von: Yuewei Chi, Yue Qiao, Ying Ma

Erschienen in: Neurological Sciences | Ausgabe 12/2024

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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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Metadaten
Titel
Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review
verfasst von
Yuewei Chi
Yue Qiao
Ying Ma
Publikationsdatum
08.07.2024
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 12/2024
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-024-07651-0

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