Workshop reportEuropean Workshop on Emery-Dreifuss Muscular Dystrophy 1991
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Cited by (32)
Childhood muscular dystrophies
2023, Handbook of Clinical NeurologyEmery-Dreifuss muscular dystrophy
2011, Handbook of Clinical NeurologyCitation Excerpt :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).
Myopathies with early contractures
2007, Handbook of Clinical NeurologyCitation Excerpt :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).
Laminopathies: Multisystem dystrophy syndromes
2006, Molecular Genetics and Metabolism