SMN1 dosage analysis in spinal muscular atrophy from India
Cyclic AMP Response Element-Binding Protein
Muscular Atrophy, Spinal
Nerve Tissue Proteins
SMN1 copy number analysis is an important parameter for identification of couples at risk for having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA. The dosage analysis is also useful for the counseling of clinically suspected SMA with a negative diagnostic SMA test.