Abstract
Spinal muscular atrophy is an autosomal recessive disorder caused by degeneration of motor neurons in the spinal cord and brainstem because of mutations in SMN1. SMN2, a homologous gene, is able to produce only a small amount of functional survival motor neuron protein (SMN), which is insufficient to maintain the health and normal function of motor neurons. The number of copies of SMN2 varies between individuals, and some patients might have the same number of SMN2 copies but different phenotypes.
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