43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 7, Issue 1, 1997, Pages 67-69

  Yates, John R W ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EMERIN; PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; CONFERENCE PAPER; EMERY DREIFUSS MUSCULAR DYSTROPHY; HUMAN; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; NETHERLANDS; PRIORITY JOURNAL; WORKSHOP;

EID: 0030945061     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00403-8     Document Type: Conference Paper

References (11)

1. [1] Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989;26:637-41.
2. [2] McKusick VA. Mendelian inheritance in man. Baltimore: Johns Hopkins University Press, 1990.
3. [3] Yates JRW. European workshop on Emery-Dreifuss muscular dystrophy 1991. Neuromusc Disord 1991;1:393-96.
4. [4] Bione S. Maestrini E. Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-27.
5. [5] Bione S, Small K, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JRW, Warren ST, Toniolo D. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995;4:1859-63.
6. [6] Klauek SM, Wilgenbus P, Yates JRW, Müller CR, Poustka A. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Molec Genet 1995;4:1853-57.
7. [7] Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet 1995;4:2003-04.
8. [8] 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. Nat Genet 1996;12:254-59.
9. [9] Yamada T, Kobayashi T. A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. Hum Genet 1996;97:693-94.
10. [10] Manilal S, Nguyen thi Man, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996;5:801-08.
11. [11] Emery AEH. Duchenne muscular dystrophy, second ed. Oxford: Oxford University Press, 1993.