Article
Management of Spinal Muscular Atrophy in the Adult Population.
Muscle & nerve - 1 May 2022
Rad Nassim, Cai Haibi, Weiss Michael D
Abstract excerpt
Spinal muscular atrophy (SMA) is a group of neurodegenerative disorders resulting from the loss of spinal motor neurons. 95% of patients share a pathogenic mechanism of loss of survival motor neuron (SMN) 1 protein expression due to homozygous deletions or other mutations of the SMN1 gene, with the different phenotypes influenced by variable copy numbers of the SMN2 gene. Advances in supportive care, disease...
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