Τετάρτη 12 Σεπτεμβρίου 2018

The motor unit number index (MUNIX) profile of patients with adult Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetically determined lower motor neuron (LMN) disease caused by loss of function of the SMN1 gene on chromosome 5 (Finkel et al. 2015) (Lefebvre et al. 1995). The disease typically manifests with proximal and symmetrical muscle weakness and atrophy, and exhibits considerable clinical heterogeneity depending on SMN2 copy numbers (Mercuri et al. 2018). SMA type III and IV are considered slowly progressive forms of the disease, extending well into adulthood and characterized by acquisition of walking ability (Wang et al.

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