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Journal of Child Neurology
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A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography

Rosalucia Mazzei, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, r.mazzei{at}isn.cnr.it.

Francesca Luisa Conforti, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza

Maria Muglia, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza

Teresa Sprovieri, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza

Alessandra Patitucci, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza

Angela Magariello, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza

Anna Lia Gabriele, PhD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza

Aldo Quattrone, MD

Institutes of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Institute of Neurology, University Magna Graecia, Catanzaro, Italy

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. (J Child Neurol 2003;18:269—271).

Journal of Child Neurology, Vol. 18, No. 4, 269-271 (2003)
DOI: 10.1177/08830738030180041301
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Home page
 Arch NeurolHome page
W.-J. Chen, Z.-Y. Wu, M.-T. Lin, J.-F. Su, Y. Lin, S.-X. Murong, and N. Wang
Molecular Analysis and Prenatal Prediction of Spinal Muscular Atrophy in Chinese Patients by the Combination of Restriction Fragment Length Polymorphism Analysis, Denaturing High-Performance Liquid Chromatography, and Linkage Analysis
Arch Neurol, February 1, 2007; 64(2): 225 - 231.
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