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From Clinical Description to Molecular Genetics

Allen D. Roses, MD

Arch Intern Med. 1985;145(8):1487-1492.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Myotonic muscular dystrophy (DM) is the most prevalent of the human muscular dystrophies. The disease is inherited as an autosomal dominant trait and is characterized by variable penetrance and variable expressivity. Many different organ systems may be clinically affected, so that patients may present with symptoms and signs other than involvement of the neuromuscular system. Many medical specialists have been interested in DM, particularly those interested in glucose and insulin metabolism, cataract formation, cardiac manifestations, congenital malformations, and muscular disease.^1,2

The first protocol for the study of DM on the Rankin Clinical Research Unit (CRU) was initiated in 1965 by Harold Lebowitz, MD, and his colleagues in the Division of Endocrinology. Since that time there has been an active protocol studying DM every year through the present. In 1970, Stanley Appel, MD, and I initiated experiments based on the hypothesis that DM is a disease involving the cellular membrane . . . [Full Text PDF of this Article]

Author Affiliations

Footnotes

Reprint requests to Division of Neurology, Duke University Medical Center, PO Box 2900, Durham, NC 27710 (Dr Roses).

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