Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista)

Type
Label
  • Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (literal)
Anno
  • 1995-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1093/hmg/4.10.1859 (literal)
Alternative label
  • Silvia Blone, Kersten Small, Veronica M.A. Aksmanovic, Michele D'Urso, Alfredo Ciccodicola, Luciano Merlini, Lucia Morandi, Wolfram Kress, John R.W. Yates, Steve T. Warren, Daniela Toniolo (1995)
    Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
    in Human molecular genetics (Print); IRL Press, Oxford (Regno Unito)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Silvia Blone, Kersten Small, Veronica M.A. Aksmanovic, Michele D'Urso, Alfredo Ciccodicola, Luciano Merlini, Lucia Morandi, Wolfram Kress, John R.W. Yates, Steve T. Warren, Daniela Toniolo (literal)
Pagina inizio
  • 1859 (literal)
Pagina fine
  • 1863 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://hmg.oxfordjournals.org/content/4/10/1859.full.pdf (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 4 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 5 (literal)
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  • 10 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • Scopu (literal)
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Genetica Biochimica ed Evoluzionistica CNR, 27100 Pavia, Italy; Department of Biochemistry and Pediatrics, Emory University School of Medicine Atlanta GA30322, USA; Department of Pathology, Cambndge University Cambridge CB2 1QP, UK; Instituo Internazionale di Genetica e Biofisica CNR, 80125 Napoli; Instituo Ortopedico Rizzoli 40136 Bologna; Instituo Neurologico Besta Milano, Italy; Institute for Napoli, Human Genetics, University of Wurzburg Germany. (literal)
Titolo
  • Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (literal)
Abstract
  • The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardiomyopathy characterized by conduction defects. Heart block is a frequent cause of death. Finding of mutations in one of the transcripts in the critical region in distal Xq28 led to the identification of the gene responsible for the disease. We now report the sequence of the gene which is 2100 bp long and the development of a set of primers to amplify and sequence the gene from patients' DNA. Eight unrelated X-linked familial cases were studied and they all carried different mutations, showing that lack of emerin in cardiac and skeletal muscle is the cause of the X-linked disease. No mutations were found in a family where the female carrier was affected nor in a sporadic case with a well established diagnosis of EDMD. Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-linked STA gene and one unidentified autosomal gene, are responsible for the disease. (literal)
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