Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation. Vitello, G., Calì, F., Vinci, M., Scuderi, C., L'Episcopo, F., Musumeci, A., Musumeci, S., & Nicotera, A. Journal of musculoskeletal & neuronal interactions, April, 2020.
abstract   bibtex   
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 young male with normal psychomotor development who has experienced fatigue, cramps, and muscle asciculations in the lower limbs for a period of 2 months. Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype.
@article{vitello_possible_2020,
	title = {Possible implication of undescribed {SMN1}-{SMN2} genotype in chronic {EMG}-pattern of {SMA} with transitory acute denervation},
	abstract = {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 young male with normal psychomotor development who has experienced fatigue, cramps, and muscle asciculations in the lower limbs for a period of 2 months.
Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype.},
	journal = {Journal of musculoskeletal \& neuronal interactions},
	author = {Vitello, Girolamo and Calì, Francesco and Vinci, Mirella and Scuderi, Carmela and L'Episcopo, Francesca and Musumeci, Antonino and Musumeci, Sebastiano and Nicotera, Antonio},
	month = apr,
	year = {2020},
	keywords = {CES},
}

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