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NEUROLOGY 1994;44:541
© 1994 American Academy of Neurology

Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene

L. Palmucci, MD, C. Doriguzzi, MD, T. Mongini, MD, G. Restagno, MD, L. Chiadò-Piat, PhD and M. Maniscalco, MD

Paolo Peirolo Center for Neuromuscular Diseases, II Division of Neurology (Drs. Palmucci, Doriguzzi, Mongini, Chiado-Piat, and Maniscalco), and Department of Genetics, Biology and Medical Chemistry (Dr. Restagno), University of Turin, CNR CII/CIOS, Turin, Italy.

A 54-year-old farmer with a negative family history had had mild proximal weakness for the previous 4 years. Clinical examination showed marked scoliosis, barrel-shaped chest, diffuse hypotrophy, and mild proximal weakness. Creatine kinase was 938 U/I; electrocardiography and echocardiography were normal. EMG disclosed myopathic changes. Muscle biopsy showed slight, nonspecific alterations. Dystrophin was present and normally distributed with antibodies against the C-terminal and N-terminal, whereas it was not recognized by the antibody against the rod domain. Western blotting detected an abnormal molecular weight protein of 320 kd (normal, 427 kd). Southern blot analysis revealed a deletion from exon 21 to exon 44, corresponding to 26% of the coding region of dystrophin. Six years' follow-up did not disclose progression of the muscle disease.

Address correspondence and reprint requests to Dr. Laura Palmucci, Clinica Neurologica, via Cherasco 15, 1-10126 Torino, Italy.

We acknowledge the financial support of Telethon-Italy to the project "Spectrum of Xp21 muscular dystrophy..."

Received July 8. 1993. Accepted for publication in final form October 18, 1993.




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