TY - JOUR
T1 - Possible implication of undescribed smn1-smn2 genotype in chronic emg-pattern of sma with transitory acute denervation
AU - Vitello, Girolamo A.
AU - Calì, Francesco
AU - Vinci, Mirella
AU - Scuderi, Carmela
AU - L’episcopo, Francesca
AU - Musumeci, Antonino
AU - Musumeci, Sebastiano A.
AU - Nicotera, Antonio G.
N1 - Funding Information:
This work was partially supported by the Italian Ministry of Health – Ricerca Corrente 2017 – and ‘5 per mille’ funding.
Publisher Copyright:
© 2020, International Society of Musculoskeletal and Neuronal Interactions. All rights reserved.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/12
Y1 - 2020/12
N2 - 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 fasciculations 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.
AB - 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 fasciculations 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.
KW - Electromyography
KW - Hereditary Motor Neuropathies
KW - SMA
KW - SMN1
KW - SMN2
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M3 - Article
AN - SCOPUS:85096700872
VL - 20
SP - 610
EP - 613
JO - Journal of Musculoskeletal Neuronal Interactions
JF - Journal of Musculoskeletal Neuronal Interactions
SN - 1108-7161
IS - 4
ER -