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Article

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Journal of child neurology - 1 Feb 2026

Falsaperla Raffaele, Cimino Carla, Avola Ottavia, Sortino Vincenzo, Saporito Marco Andrea Nicola, Pavone Piero

Abstract excerpt

Spinal muscular atrophies are a group of genetically and clinically heterogeneous neuromuscular disorders characterized by progressive loss of lower motor neurons, muscle weakness, and atrophy. Approximately 95% of spinal muscular atrophy cases are associated with a deletion of exons 7 and 8 in the survival motor neuron 1 (SMN1) gene, resulting in insufficient levels of SMN protein. The remaining 5% of cases...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41091952
DOI: 10.1177/08830738251383978

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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