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Article

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2024

Chi Yuewei, Qiao Yue, Ma Ying

Abstract excerpt

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...

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PMID: 38972959
DOI: 10.1007/s10072-024-07651-0

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