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Article

Systemic nature of spinal muscular atrophy revealed by studying insurance claims

14 Mar 2019

Abstract excerpt

OBJECTIVE: We investigated the presence of non-neuromuscular phenotypes in patients affected by Spinal Muscular Atrophy (SMA), a disorder caused by a mutation in the Survival of Motor Neuron (SMN) gene, and whether these phenotypes may be clinically detectable prior to clinical signs of neuromuscular degeneration and therefore independent of muscle weakness. METHODS: We utilized a de-identified database of...

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PMID: 30870495
DOI: 10.1371/journal.pone.0213680

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