Leiden Muscular Dystrophy data pages^©

Older "latest muscular dystrophy research news"

(last modified December 16, 2001)

• Dystrophin-associated Glycoprotein Complex (DGC) in Drosophila
  Greener MJ and Roberts RG (2000). Conservation of components of the dystrophin complex in Drosophila. FEBS Letters 482: 13-18.
  
• Myotilin gene contains mutations in LGMD-1A family
  Hauser MA et al. (2000). Myotilin is mutated in Limb Girdle muscular dystrophy 1A. Hum.Mol.Genet. 9: 2141-2147.
  
• LGMD-2G gene identified - telethonin
  Moreira ES et al. (2000). Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat.Genet. 24: 163-6.
  
• Mutations in lamin A/C (LMNA) gene cause;
  • LGMD-1B
    Muchir A et al. (2000). Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum.Mol.Genet 9: 1453-1459.
  • EDMD-AD
    Felice KJ et al. (2000). Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. Neurology 55: 275-280.
  • EDMD-AD
    Bonne G et al (2000). Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann.Neurol. 48: 170-180.

• Targeted repair DMD-gene in dogs
  Bartlett RJ et al. (2000) In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide. Nat Biotechnol 18: 615-622
  
• New locus for dominant LGMD ("LGMD-1D") mapped
  Speer MC, et al. (1999). Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am.J.Hum.Genet. 64: 556-62.
  
• Diagnosis of neuromuscular disorders
  P Roest et al. (1999). New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector. Lancet 353 (9154): 727-728.
  
• Dystrophin mRNA splicing
  A Surono et al. (1999). Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing. Hum.Mol.Genet. 8: 493-500.

• alpha1-Syntrophin deficient mice
  S Kameya et al. (1999). alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration. J.Biol.Chem 274: 2193-200.

• Dystrophin Dp71 deficient mice
  R Sarig et al. (1999). Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71. Hum.Mol.Genet. 8: 1-10.

• Hearing loss due to dystrophin mutations ?
  MH Pfister et al. (1998). A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD. Genomics 53: 377-82.

• 48^th Annual meeting of the American Society of Human Genetics: Oct. 27-31 (Denver, USA)
• Gene for Fukuyama congenital muscular dystrophy ("fukutin") cloned
  K Kobayashi et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Am.J.Hum.Genet. 63(4): A5 (abstract 16).
• Muscular dystropic phenotype in the gamma-sarcoglycan deficient mice
  T Sasaoka et al. Am.J.Hum.Genet. 63(4): A284 (abstract 2228).

• Alpha-sarcoglycan deficient mice
  Duclos F, Straub V, Moore SA, Venzke DP, Hrstka RF, Crosbie RH, Durbeej M, Lebakken CS, Ettinger AJ, van der Meulen J, Holt KH, Lim LE, Sanes JR, Davidson BL, Faulkner JA, Williamson R, Campbell KP. Progressive muscular dystrophy in alpha-sarcoglycan deficient mice. J.Cell Biol. 142: 1461-71.

• Gene for LGMD-2B / Miyoshi myopathy ("dysferlin") cloned
  
• J Liu, M Aoki, I Illa, C Wu, M Fardeau, C Angelini, C Serrano, J A Urtizberea, F Hentati, M B, Hamida, S Bohlega, E J Culper, A A Amato, K Bossie, J Oeltjen, K Bejaoui, D McKenna-Yasek, B A Hosler, E Schurr, K Arahata, P J de Jong and R H Brown. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat.Genet. 20: 31-36.
• R Bashir, S Britton, T Strachan, S Keers, E Vafiadaki, M Lako, I Richard, S Marchand, N Bourg, Z Argov, M Sadeh, I Mahjneh, G Marconi, M R Passos-Bueno, E D S Moreira, M Zatz, J S Beckmann and K Bushby. A gene related to Caenorhabditis elegans spermatogenesis factor is mutated in limb-girdle muscular dystrophy type 2B. Nat.Genet. 20: 37-42.
• Dysferlin at this site

• New Limb-Girdle muscular dystrophy locus (LGMD-2H) mapped
  Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K and Wrogemann K (1998). A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am.J.Hum.Genet. 63: 140-147.

• A new dystrophin mutation in X-linked Dilated Cardiomyopathy
  Ferlini, A., Galie, N., Merlini, L., Sewry, C., Branzi, A., and Muntoni, F. (1998). A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy. Am.J.Hum.Genet. 63: 436-446

• A new murine dystrophin model: mdx^beta-geo
  Wertz K., Fuchtbauer E.M. (1998). Dmd^{mdx-beta geo}: a new allele for the mouse dystrophin gene. Dev.Dyn. 212: 229-241.

• Modifying splicing as a tool for dystrophin gene therapy ?
  Dunckley M.G., Manoharan M., Villiet P., Eperon I.C., Dickson G. (1998). Modification of splicing in the dystrophin gene in cultured mdx muscle cells by antisense oligoribonucleotides. Hum.Mol.Genet. 7(7):1083-1090.

• New Limb-Girdle muscular dystrophy gene identified (LGMD-1C)
  Carlo Minetti, Federica Sotgia1, Claudio Bruno1, Paolo Scartezzini, Paolo Broda1, Massimo Bado, Emiliana Masetti, Michela Mazzocco, Aliana Egeo, Maria Alice Donati, Daniela Volonté, Ferruccio Galbiati, Giuseppe Cordone1, Franca Dagna Bricarelli, Michael P. Lisanti and Federico Zara (1998). Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat.Genet. 18: 365-368.

• The evolution of dystrophins:
  
  • J. Wang, A. Pansky, J.M. Venuti, D. Yaffe and U. Nudel (1998). A sea urchin gene encoding dystrophin-related proteins. Hum.Mol.Genet. 7: 581-588.
  • R.G. Roberts and M. Bobrow (1998). Dystrophins in vertebrates and invertebrates. Hum.Mol.Genet.7: 589-595.

• Multiplex PTT for the dystrophin gene
  Whittock, N.V., Roberts, R.G., Mathew, C.G. and Abbs, S.J. (1997). Dystrophin point mutation screening using a multiplexed Protein Truncation Test. Genetic Testing 1(2):115-123.

• New murine dystrophin model: mdx⁵²
  Araki, E., Nakamura, K., Nakao, K., Kameya, S., Kobayashi, O., Nonaka, I., Kobayashi, T. and Katsuki, M. (1997). Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy. Biochem.Biophys.Res.Commun. 238: 492-497.

• Sarcospan, the 25 kDa constituent of the dystrophin glycoprotein complex
  Crosbie, R.H., Heighway, J., Venzke, D.P., Lee, J.C. and Campbell, K.P. (1997). Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J.Biol.Chem. 272: 31221-31224.

• Utrophin / dystrophin deficient mice:
  • Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy (1997). Anne E. Deconinck, Jill A. Rafael, Judith A. Skinner, Susan C. Brown, Allyson C. Potter, Laurent Metzinger, Diana J. Watt, J. George Dickson, Jonathon M. Tinsley, and Kay E. Davies. Cell 90: 717-727.
  • Skeletal and Cardiac Myopathies in Mice Lacking Utrophin and Dystrophin: A Model for Duchenne Muscular Dystrophy (1997). R. Mark Grady, Haibing Teng, Mia C. Nichol, Jeanette C. Cunningham, Robert S. Wilkinson, and Joshua R. Sanes. Cell 90: 729-738.
    
• New LGMD locus (LGMD-2G) mapped to 17q11-12
  Eloisa S. Moreira, Mariz Vainzof, Sueli K. Marie, Andrea L. Sertié, Mayana Zatz, and Maria R. Passos-Bueno (1997). The seventh sorm of autosomal recessive Limb-Girdle Muscular Dystrophy is mapped to 17q11-12. Am.J.Hum.Genet. 61: 151-156.
  

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