Abstract
Advances and limitations for the Treatment of Spinal Muscular Atrophy
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.
Author(s):
Nathalie Kertesz, Amy Place, George Nomikos, Kimberly Long, Kelly Howell, John W Day
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