Bione et al., 1994 - Google Patents
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophyBione et al., 1994
View PDF- Document ID
- 14605540166535809426
- Author
- Bione S
- Maestrini E
- Rivella S
- Mancini M
- Regis S
- Romeo G
- Toniolo D
- Publication year
- Publication venue
- Nature genetics
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Snippet
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28 …
- 102100003962 EMD 0 title abstract description 66
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