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Review Open access Sep 2026

Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.

BACKGROUND 5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1), leading to deficiency of SMN protein and a variable clinical spectrum influenced by survival motor neuron 2 gene (SMN2) copy number. The advent of disease-modif...

Andrés Nascimento-Osorio, Graciela Barros Acevedo, M. de los Ángeles Beytía et al. · 0 citations

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