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Bione et al., 1994 - Google Patents

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Bione et al., 1994

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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 …
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