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emerin

Friday 14 November 2003

Emerin is encoded by the STA gene at the Xq28 locus.

Pathology

- mutations in X-linked Emery-Dreifuss muscular dystrophy (EDMD)

References

- Morris GE, Manilal S. Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 1999;8(10):1847-51. PMID: 10469836