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NEUROLOGY 1994;44:1448
© 1994 American Academy of Neurology

Proximal myotonic myopathy

A new dominant disorder with myotonia, muscle weakness, and cataracts

K. Ricker, MD, M. C. Koch, MD, F. Lehmann-Horn, MD, D. Pongratz, MD, M. Otto, PhD, R. Heine and R. T. Moxley, III, MD

Department of Neurology (Dr. Ricker), University of Würzburg; the Department of Human Genetics (Drs. Koch and Otto), University of Marburg; the Department of Applied Physiology (Dr. Lehmann-Horn and Mr. Heine), University of Ulm; and the Department of Neurology of the Friedrich-Baur-Stiftung (Dr. Pongratz), Munich, Germany; and the Department of Neurology (Dr. Moxley), University of Rochester, Rochester, NY.

We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in DNA from blood and muscle. The structure of the three families permitted linkage analysis, and there is no linkage to the gene loci for DM or to the loci for the muscle chloride channel disorders or muscle sodium channel disorders. The collection of symptoms in these three families seems to represent a new disorder.

Address correspondence and reprint requests to Dr. Richard T. Moxley III, Department of Neurology, University of Rochester, 601 Elmwood Avenue, P.O. Box 673, Rochester, NY 14642.

Supported by the Deutsche Forschungsgemeinschaft, National Institutes of Health grants NIANS RO1 AR38894, NINDS RO1 NS22099, NIH AG 10463-02, and NIDDK RO1 DK40394-05, and the Muscular Dystrophy Association of America, the Saunders Foundation, and the Waasdorp Foundation.

Received November 9, 1993. Accepted in final form February 11, 1994.




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