Article
Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates
1 Jan 2018
Abstract excerpt
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity. Variations in penetrance and severity of symptoms, as well as clinical discrepancies between affected family members can result from modifier genes influence on disease manifestation. SMN2 gene copy number is known to be the main phenotype...
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