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Survival motor neuron I (SMN-I)
83%
482/579
Peripheral myelin protein 22 (PMP22)
9%
51/579
Dystrophin
7%
43/579
Androgen receptor
0%
2/579
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Deletions in the SMN-I gene are found in 95% to 98% of patients with spinal muscular atrophy. Genetic testing is typically part of the diagnostic workup for spinal muscular atrophy. A positive test result is diagnostic, and, in most cases, eliminates the need for muscle biopsy. The other choices are not associated with spinal muscular atrophy. Defects in PMP22 are the cause of 70% to 80% of cases of Charcot-Marie-Tooth disease. Mutations in the dystrophin gene cause Duchenne muscular dystrophy, and mutations in the androgen receptor cause spinobulbar muscular atrophy (Kennedy's disease).
3.4
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