Workshop report
European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

https://doi.org/10.1016/0960-8966(91)90002-AGet rights and content

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      Myopathic features, and possibly dystrophic features, on muscle biopsy. In 1991, it was noted that this diagnosis required XLR inheritance (Yates, 1991). However, in 1998 a conference was held in which both sporadic and autosomally inherited forms of disease resembling EDMD were clearly described (Wehnert and Muntoni, 1999).

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      The gene locus for this entity, which is known as Emery–Dreifuss muscular dystrophy (EDMD), is located at Xq28, and the gene (STA) which is 2100 bp in length and consists of six exons, encodes a 254 amino acid serine‐rich protein, identified as emerin (Bione et al., 1994). The disorder is characterized by the following set of clinical features (Yates, 1991; Emery, 2000): Early contractures, often before there is any significant weakness, of the Achilles tendons, elbows and postcervical muscles (with subsequent limitation of neck flexion, but later forward flexion of the entire spine becomes limited).

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