Aoki, M. and Liu, J. and Richard, I. and Bashir, R. and Britton, S. and Keers, S. M. and Oeltjen, J. and Brown, H. E. V. and Marchand, S. and Bourg, N. and Beley, C. and McKenna-Yasek, D. and Arahata, K. and Bohlega, S. and Cupler, E. and Illa, I. and Majneh, I. and Barohn, R. J. and Urtizberea, J. A. and Fardeau, M. and Amato, A. and Angelini, C. and Bushby, K. and Beckmann, J. S. and Brown, R. H. (2001) 'Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.', Neurology., 57 (2). pp. 271-278.
OBJECTIVE: Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organization of the dysferlin gene and conduct mutational screening and a survey of clinical features in 21 patients with defined molecular defects in the dysferlin gene. METHODS: Genomic organization of the gene was determined by comparing the dysferlin cDNA and genomic sequence in P1-derived artificial chromosomes (PACs) containing the gene. Mutational screening entailed conformational analysis and sequencing of genomic DNA and cDNA. Clinical records of patients with defined dysferlin gene defects were reviewed retrospectively. RESULTS: The dysferlin gene encompasses 55 exons spanning over 150 kb of genomic DNA. Mutational screening revealed nine novel mutations associated with MM. The range of onset in this patient group was narrow with a mean of 19.0 ± 3.9 years. CONCLUSION: This study confirms that the dysferlin gene is mutated in MM and LGMD2B and extends understanding of the timing of onset of the disease. Knowledge of the genomic organization of the gene will facilitate mutation detection and investigations of the molecular biologic properties of the dysferlin gene.
|Keywords:||Girdle muscular-dystrophy, Fertilization-defective mutants, Caenorhabditis-elegans, Chromosome 2P, SJL mice, Locus, 2B, Modifier, Protein, Sperm.|
|Full text:||Full text not available from this repository.|
|Publisher Web site:||http://www.neurology.org/cgi/content/abstract/57/2/271|
|Record Created:||18 May 2007|
|Last Modified:||08 Apr 2009 16:32|
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