Which gene is primarily mutated in Spinomuscular Atrophy?
Understand the Problem
The question is asking to identify the specific gene that is primarily mutated in Spinal Muscular Atrophy from the provided options.
Answer
SMN1 gene
The primary gene mutated in Spinomuscular Atrophy is the SMN1 gene.
Answer for screen readers
The primary gene mutated in Spinomuscular Atrophy is the SMN1 gene.
More Information
The SMN1 gene, also known as the survival motor neuron 1 gene, is crucial for producing the SMN protein needed for motor neuron function.
Sources
- Spinal Muscular Atrophy - Cleveland Clinic - my.clevelandclinic.org
- Causes/Inheritance - Spinal Muscular Atrophy (SMA) - Diseases - mda.org
- Spinal muscular atrophy | Orphanet Journal of Rare Diseases - ojrd.biomedcentral.com
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