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A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid
Rosalucia Mazzei1, Francesca Luisa Conforti, Maria Muglia
1Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. r.mazzei@isn.cnr.it
Abstract:
Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific.

