Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

  title={Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7},
  author={Camille Rochette and Linda C. Surh and Peter N. Ray and Patricia E McAndrew and Thomas W. Prior and A. Burghes and Michel Vanasse and Louise R. Simard},
The telomeric survival motor neuron (SMNT gene is a valuable molecular diagnostic tool for childhood-onset spinal muscular atrophy (SMA) as homozygous deletions of SMNT exon 7 (Δ7SMNT) are present in ∼94% of patients. In this report, we provide the first comprehensive study of 32 unrelated non-deletion SMA patients. Quantitative polymerase chain reaction (PCR) studies established that 90% had two intact copies of SMNT exon 7 suggesting that that these patients do not have 5q SMA. Once 5q SMA… CONTINUE READING
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