Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies

Neuromuscular Disorders

Volumn 7, Issue 1, 1997, Pages 63-66

  Manilal, S ^a   Sewry, C A ^b   Man, Nguyen Thi ^a   Muntoni, F ^b   Morris, G E ^a  

^a GLYNDWR UNIVERSITY   (United Kingdom)

^b MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

Author keywords

Emerin; Immunodiagnosis; Monoclonal antibody; Nuclear envelope; X inactivation

Indexed keywords

MONOCLONAL ANTIBODY;

ADULT; ARTICLE; CASE REPORT; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOFLUORESCENCE MICROSCOPY; LEUKOCYTE; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN ANALYSIS; SKIN; X CHROMOSOME LINKAGE;

EID: 0030940131     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00405-1     Document Type: Article

References (10)

1. [1] Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989;26:637-41.
2. [2] 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;8:323-7.
3. [3] Nagano A, Koga R, Ogavva M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-9.
4. [4] 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;5:801-8.
5. [5] Nguyen thi Man, Ellis JM, Love DR, Davies KE, Gatter KC, Dickson G, Morris GE. Localisation of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophin skeletal muscle, in vascular and other smooth muscles, and in proliferating brain cell lines. J Cell Biol 1991;115:1695-700.
6. [6] Le Thiet Thanh, Nguyen thi Man, Love DR, Helliwell TR, Davies KE, Morris GE. Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterisation of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7. Am J Hum Genet 1993;53:131-9.
7. [7] Bione S, Yates JRW, Warren ST, Merlini L, Morandi L, Toniolo D. Mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for an autosomal form. Neuromusc Disord 1996;6:S15 (abs).
8. [8] Lyon, MF. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962;14:135-48.
9. [9] Brown, RM, Brown, GK. X-chromosome inactivation and the diagnosis of X-linked disease in females. J Med Genet 1993;30:177-84.
10. [10] Pegararo E, Schimke RN, Garcia C, et al. Genetic and biochemical normalization in female carriers of Duchenne Muscular Dystrophy. Neurology 1995;45:677-90.