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Article

Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.

Journal of musculoskeletal & neuronal interactions - 1 Dec 2020

Vitello Girolamo A, Calì Francesco, Vinci Mirella, Scuderi Carmela, L'Episcopo Francesca, Musumeci Antonino, Musumeci Sebastiano A, Nicotera Antonio G

Abstract excerpt

Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular activity achieved, and life expectation four types of SMA are recognized, all caused by mutations in the SMN1 gene with SMN2 copy number influencing disease severity. Herein, we describe the case of a 31-year-old...

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PMID: 33265090
PMCID: PMC7716687

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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