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• Health Topic: Muscular Dystrophy https://medlineplus.gov/musculardystrophy.html Genetic and Rare Diseases Information Center • Emery-Dreifuss muscular dystrophy -
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- Publisher
- Wiley
- Copyright
- Copyright © 1979 American Neurological Association
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- DOI
- 10.1002/ana.410050203
- pmid
- 426473
- Publisher site
- See Article on Publisher Site
Abstract
A man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X‐linked recessive trait. Mixed patterns in electromyography and muscle histology have caused nosological confusion, but the unique clinical signs seem to define a distinct form of muscular dystrophy, warranting the designation “Emery‐Dreifuss” type.
Journal
Annals of Neurology – Wiley
Published: Feb 1, 1979