Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

By M. Feldkötter, V. Schwarzer, Radu Wirth, T. Wienker, B. Wirth. American Journal of Human Genetics, 2002

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Spinal Muscular Atrophy: Why do low levels of SMN make motor neurons sick? (2009, background): “The copy number of SMN2 is a major determinant of severit”
Current Clinical Applications of In Vivo Gene Therapy with AAVs (2020, background): “In the absence of SMN1, the SMN2 copy number is the major determinant of the clinical phenotype.(7) Affected infants with 2 copies of SMN2 are likely to develop severe type 1 (SMA1), characterized by rapidly progressive weakness, inability to sit independently, respiratory insufficiency with progres”
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. (2017, neutral): “The majority of type 1 SMA patients carry two SMN2 copies, type 2 SMA and type 3a SMA patients (onset before the age of 3 years) three SMN2 copies, type 3b SMA patients (age of onset after 3 years) four SMN2 copies, and type 4 four to six copies [26,30].”
Pre-mRNA splicing and human disease. (2003, methodology): “Quantification of SMN2 gene number using realtime PCR showed that individuals with the less severe type III typically have multiple copies of the SMN2 gene through gene replacement and duplication (Feldkotter et al. 2002).”