Spinal Muscular Atrophy | CheckRare.com

Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins complexes, and while its exact function remains unclear, the absence of the SMN …

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