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Ming-Chao Li

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Case report Open access Sep 2026

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series

Abstract Background Spinal muscular atrophy (SMA) is a recessively inherited autosomal neuromuscular disorder that is associated with deletions or disease-causing variants in the survival motor neuron 1 (SMN1) gene. Delayed diagnosis of SMA remains a common issue worldwide, particularly in regions with unequal medical...

Xi-Hua Guo, Yu-Qi Luo, Ming-Chao Li et al. · 1 citation

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