Emery-Dreifuss muscular dystrophy
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#
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