BACKGROUND Emery-Dreifuss muscular dystrophy is a genetically heterogeneous form of muscular dystrophy. One form is inherited in an X-linked fashion and is secondary to mutations in the gene encoding the nuclear protein emerin. A more common variant is inherited in an autosomal dominant way (EDMD2) due to mutations affecting the nuclear lamina protein lamin A/C. Typical features of both conditi...

This session was dedicated to patients, their relatives and delegates of Family Associations (the Progeria Family Circle, the European Association of Progeria Families; AIProSaB, the Italian Association for Progeria, Sammy Basso; AIDMED, the Italian Association for Emery-Dreifuss Muscular Dystrophy; the Associazione Alessandra Proietti for Emery-Dreifuss Muscular Dystrophy), with the main objec...

Emerin is the nuclear membrane protein defective in X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). The majority of X-EDMD patients have no detectable emerin. However, there are cases that produce mutant forms of emerin, which can be used to study its function. Our previous studies have shown that the emerin mutants S54F, P183T, P183H, Del95-99, Del236-241 (identified in X-EDMD patients) a...

31-year-old man with Emery–Dreifuss muscular dystrophy (EDMD) presenting for bilateral Achilles lengthening and equinoplanovalgus deformity correction. We performed bilateral popliteal sciatic and femoral nerve blockade, using ultrasound guidance and nerve stimulator confirmation, mainly to avoid some potential pitfalls of general anesthesia and airway instrumentation. However, the patient appe...

Infections associated with Vibrio parahaemolyticus on the coast of Galicia (in northwestern Spain) were reported to be linked to large outbreaks of illness during 1999 and 2000. Little information is available about the ecological factors that influence the emergence of V. parahaemolyticus infections in this temperate region. We carried out a 3-year study to investigate the occurrence and distr...