Abstract

Myotonic dystrophy is a multisystem disorder that is transmitted in an autosomal dominant fashion and is characterized by muscular weakness and atrophy, clinical and electromyographic evidence of myotonia, ocular cataract, and various other abnormalities, such as cardiac conduction disturbances, testicular atrophy in males, premature balding, increased risk from anesthesia, and mental retardation in cases with early onset1. It is the most common inherited muscular dystrophy of adulthood, with an incidence of approximately 1 per 7500 people. The clinical expression of myotonic dystrophy is variable, ranging from neonatal mortality to a complete absence of symptoms. Recently, the disorder has been . . .

Keywords

MedicineMyotoniaMyotonic dystrophyAtrophyMuscular dystrophyWeaknessPediatricsCardiologyInternal medicineSurgery

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Year
1993
Type
article
Volume
328
Issue
7
Pages
476-480
Citations
86
Access
Closed

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Han G. Brunner, Gert Jansen, Willy M. Nillesen et al. (1993). Reverse Mutation in Myotonic Dystrophy. New England Journal of Medicine , 328 (7) , 476-480. https://doi.org/10.1056/nejm199302183280705

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DOI
10.1056/nejm199302183280705