Advances and limitations for the Treatment of Spinal Muscular Atrophy
Nathalie Kertesz, Amy Place, George Nomikos, Kimberly Long, Kelly Howell, John W Day
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Abstract
Spinal Muscular Atrophy (5q-SMA;SMA) is a genetic neuromuscular condition effecting spinal motor neurons. SMA is caused by a defect in both copies of the SMN1 gene that produces Survival Motor Neuron (SMN) protein. The highly homologous SMN2 gene primarily expresses an unstable, rapidly degraded isoform of SMN protein.
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