Klauck SM, Wilgenbus P, Yates JRW, Muller CR, Poustka A. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression . Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Paquis V, Philip N, Voelckel MA, Pouget J, Lemieux B, Mattei JF, Giraud F. Linkage studies in Emery-Dreifuss muscular dystrophy. Romeo G, Roncuzzi L, Sangiorgi S, Giacanelli M, Liguori M, Tessarolo D, Rocchi M. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
Emerin deletions occurring on both Xq28 inversion backgrounds. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. X-linked scapuloperoneal syndrome. Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. Yamada T, Kobayashi T. A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.