Emery‐dreifuss muscular dystrophy
- 1 February 1979
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 5 (2) , 111-117
- https://doi.org/10.1002/ana.410050203
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.Keywords
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