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Spinal Muscular Atrophy Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008 See this aricle in Pubmed Article Abstract Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterized by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalized weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, therapeutic development, and evidence from clinical trials.

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