Emery-dreifuss muscular dystrophy
✍ Scribed by Dr L. P. Rowland; M. Fetell; M. Olarte; A. Hays; N. Singh; F. E. Wanat
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 776 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
✦ Synopsis
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.
📜 SIMILAR VOLUMES
## Abstract The diagnosis of Emery–Dreifuss muscular dystrophy (EDMD) is suggested by the combination of musculoskeletal weakness and wasting, joint contractures, and cardiac disease. Herein we report a patient in whom an ischemic stroke prompted the diagnosis of EDMD. A mutation in the __LMNA__ ge
## Communicated by Jiirgen Horst Mutations in the emerin gene, also referred to as the STA-or EMD-gene, have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). For the present study an optimized set of primers was designed to amplify and sequence each of the six emerin