Emery-Dreifuss muscular dystrophy: Case report
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2012-03-01
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| Series: | Revista Portuguesa de Cardiologia (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2174204912000141 |