Emery-Dreifuss muscular dystrophy
Pathology
mutations in the STA gene at the Xq28 locus coding for emerin. (8589715)
References
Morris GE. The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy. Trends Mol Med. 2001 Dec;7(12):572-7. PMID: 11733221
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