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NEUROLOGY 2003;61:1432-1434
© 2003 American Academy of Neurology
Brief Communications

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

I. Fernandez-Cadenas, MSc*, A.L. Andreu, MD, PhD*, J. Gamez, MD, PhD, R. Gonzalo, MSc, M.A. Martín, PhD, J.C. Rubio, MSc and J. Arenas, MD, PhD

*These authors contributed equally to this work.
From Centre d’Investigacions en Bioquímica y Biología Molecular (CIBBIM) (I. Fernandez-Cadenas, Dr. Andreu, and R. Gonzalo) and Servei de Neurologia (Dr. Gamez), Hospital Universitari Vall d’Hebron, Barcelona; and Centro de Investigación (Dr. Martín, J.C. Rubio, and Dr. Arenas), Hospital Universitario 12 de Octubre, Madrid, Spain.

Address correspondence and reprint requests to Dr. Joaquín Arenas, Hospital Universitario 12 de Octubre, Avda Córdoba s/n, 28041 Madrid, Spain; e-mail: joaquin.arenas{at}madrid.org

The authors report the molecular findings in a patient with McArdle disease who harbored a silent polymorphism (K608K) in the myophosphorylase gene. cDNA studies demonstrated that this polymorphism leads to a severe mosaic alteration in mRNA splicing, including exon skipping, activation of cryptic splice-sites, and exon-intron reorganizations. These findings suggest that, in patients with McArdle disease in whom no pathogenic mutation has been found, any a priori silent polymorphism should be re-evaluated as a putative splicing mutation.

Received June 12, 2003. Accepted in final form August 13, 2003.

See also page 1330




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