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NEUROLOGY 1987;37:1460
© 1987 American Academy of Neurology

Hereditary motor and sensory neuropathy, X-linked

A half century follow-up

M. P. Rozear, MD, M. A. Pericak-Vance, PhD, K. Fischbeck, MD, J. M. Stajich, PA-C, P. C. Gaskell, Jr., PA-C, D. A. Krendel, MD, D. G. Graham, MD, PhD, D. V. Dawson, PhD and A. D. Roses, MD

Department of Internal Medicine, Division of Neurology (Drs. Rozear and Pericak-Vance, Messrs. Stajich and Gaskell, and Drs. Krendel, Dawson, and Roses) and the Department of Pathology (Dr. Graham), Duke University Medical Center, Durham, NC; and the Department of Neurology (Dr. Fischbeck), University of Pennsylvania, Philadelphia, PA.

The existence of an X-linked sensorimotor peripheral neuropathy has been debated. We reevaluated the original family, and present data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease in the men and the extremely variable degree of clinical involvement in the carriers. Use of DNA probes indicates that the gene lies in the DXYS1-p58-1 region of the X-chromosome.

Address correspondence and reprint requests to Dr. Rozear, Department of Internal Medicine, Duke University Medical Center, Box 3849, Durham, NC 27710.

Supported by a grant from the Denver Fund for Health and Medical Research, Incorporated (A.D.R.), by research grants from the Muscular Dystrophy Association (A.D.R., K.F.), the March of Dimes (K.F.), the NINCDS (# NS1999), and the National Institute of Health (NS00695 and NS08075).

Received October 3, 1986. Accepted for publication in final form December 12, 1986.




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