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MeSH Review

Muscular Dystrophies, Limb-Girdle

 
 
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Gene context of Muscular Dystrophies, Limb-Girdle

 

Analytical, diagnostic and therapeutic context of Muscular Dystrophies, Limb-Girdle

References

  1. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Messina, D.N., Speer, M.C., Pericak-Vance, M.A., McNally, E.M. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Brockington, M., Yuva, Y., Prandini, P., Brown, S.C., Torelli, S., Benson, M.A., Herrmann, R., Anderson, L.V., Bashir, R., Burgunder, J.M., Fallet, S., Romero, N., Fardeau, M., Straub, V., Storey, G., Pollitt, C., Richard, I., Sewry, C.A., Bushby, K., Voit, T., Blake, D.J., Muntoni, F. Hum. Mol. Genet. (2001) [Pubmed]
  3. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Muchir, A., Bonne, G., van der Kooi, A.J., van Meegen, M., Baas, F., Bolhuis, P.A., de Visser, M., Schwartz, K. Hum. Mol. Genet. (2000) [Pubmed]
  4. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Illarioshkin, S.N., Ivanova-Smolenskaya, I.A., Greenberg, C.R., Nylen, E., Sukhorukov, V.S., Poleshchuk, V.V., Markova, E.D., Wrogemann, K. Neurology (2000) [Pubmed]
  5. Efficient and long-term intracardiac gene transfer in delta-sarcoglycan-deficiency hamster by adeno-associated virus-2 vectors. Li, J., Wang, D., Qian, S., Chen, Z., Zhu, T., Xiao, X. Gene Ther. (2003) [Pubmed]
  6. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Louhichi, N., Triki, C., Quijano-Roy, S., Richard, P., Makri, S., Méziou, M., Estournet, B., Mrad, S., Romero, N.B., Ayadi, H., Guicheney, P., Fakhfakh, F. Neurogenetics (2004) [Pubmed]
  7. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Betz, R.C., Schoser, B.G., Kasper, D., Ricker, K., Ramírez, A., Stein, V., Torbergsen, T., Lee, Y.A., Nöthen, M.M., Wienker, T.F., Malin, J.P., Propping, P., Reis, A., Mortier, W., Jentsch, T.J., Vorgerd, M., Kubisch, C. Nat. Genet. (2001) [Pubmed]
  8. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Moreira, E.S., Wiltshire, T.J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O.T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M.R., Jenne, D.E. Nat. Genet. (2000) [Pubmed]
  9. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Bittner, R.E., Anderson, L.V., Burkhardt, E., Bashir, R., Vafiadaki, E., Ivanova, S., Raffelsberger, T., Maerk, I., Höger, H., Jung, M., Karbasiyan, M., Storch, M., Lassmann, H., Moss, J.A., Davison, K., Harrison, R., Bushby, K.M., Reis, A. Nat. Genet. (1999) [Pubmed]
  10. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M.R., Moreira, E.d.e. .S., Zatz, M., Beckmann, J.S., Bushby, K. Nat. Genet. (1998) [Pubmed]
  11. Mutations in the sarcoglycan genes in patients with myopathy. Duggan, D.J., Gorospe, J.R., Fanin, M., Hoffman, E.P., Angelini, C. N. Engl. J. Med. (1997) [Pubmed]
  12. Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway. Kramerova, I., Kudryashova, E., Venkatraman, G., Spencer, M.J. Hum. Mol. Genet. (2005) [Pubmed]
  13. A population study of adult onset limb-girdle muscular dystrophy. Yates, J.R., Emery, A.E. J. Med. Genet. (1985) [Pubmed]
  14. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Angelini, C., Fanin, M., Menegazzo, E., Freda, M.P., Duggan, D.J., Hoffman, E.P. Muscle Nerve (1998) [Pubmed]
  15. Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye? Tonini, M.M., Passos-Bueno, M.R., Cerqueira, A., Pavanello, R., Vainzof, M., Dubowitz, V., Zatz, M. Neuromuscul. Disord. (2002) [Pubmed]
  16. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. Vainzof, M., Passos-Bueno, M.R., Pavanello, R.C., Marie, S.K., Oliveira, A.S., Zatz, M. J. Neurol. Sci. (1999) [Pubmed]
  17. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Baghdiguian, S., Martin, M., Richard, I., Pons, F., Astier, C., Bourg, N., Hay, R.T., Chemaly, R., Halaby, G., Loiselet, J., Anderson, L.V., Lopez de Munain, A., Fardeau, M., Mangeat, P., Beckmann, J.S., Lefranc, G. Nat. Med. (1999) [Pubmed]
  18. Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. Tagawa, K., Taya, C., Hayashi, Y., Nakagawa, M., Ono, Y., Fukuda, R., Karasuyama, H., Toyama-Sorimachi, N., Katsui, Y., Hata, S., Ishiura, S., Nonaka, I., Seyama, Y., Arahata, K., Yonekawa, H., Sorimachi, H., Suzuki, K. Hum. Mol. Genet. (2000) [Pubmed]
  19. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Bueno, M.R., Moreira, E.S., Vainzof, M., Chamberlain, J., Marie, S.K., Pereira, L., Akiyama, J., Roberds, S.L., Campbell, K.P., Zatz, M. Hum. Mol. Genet. (1995) [Pubmed]
  20. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Duggan, D.J., Manchester, D., Stears, K.P., Mathews, D.J., Hart, C., Hoffman, E.P. Neurogenetics (1997) [Pubmed]
  21. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. Naom, I., D'Alessandro, M., Sewry, C.A., Philpot, J., Manzur, A.Y., Dubowitz, V., Muntoni, F. Neuromuscul. Disord. (1998) [Pubmed]
  22. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Takada, F., Vander Woude, D.L., Tong, H.Q., Thompson, T.G., Watkins, S.C., Kunkel, L.M., Beggs, A.H. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  23. Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy. Durbeej, M., Sawatzki, S.M., Barresi, R., Schmainda, K.M., Allamand, V., Michele, D.E., Campbell, K.P. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  24. Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. Galbiati, F., Volonte, D., Minetti, C., Chu, J.B., Lisanti, M.P. J. Biol. Chem. (1999) [Pubmed]
  25. A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. Smythe, G.M., Eby, J.C., Disatnik, M.H., Rando, T.A. J. Cell. Sci. (2003) [Pubmed]
  26. Nuclear envelope proteins and associated diseases. Nagano, A., Arahata, K. Curr. Opin. Neurol. (2000) [Pubmed]
  27. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M.A., Volonte, D., Galbiati, F., Cordone, G., Bricarelli, F.D., Lisanti, M.P., Zara, F. Nat. Genet. (1998) [Pubmed]
  28. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nigro, V., de Sá Moreira, E., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A.A., Passos-Bueno, M.R., Zatz, M. Nat. Genet. (1996) [Pubmed]
  29. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Lim, L.E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C. Nat. Genet. (1995) [Pubmed]
  30. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Frock, R.L., Kudlow, B.A., Evans, A.M., Jameson, S.A., Hauschka, S.D., Kennedy, B.K. Genes Dev. (2006) [Pubmed]
  31. Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. van der Ven, P.F., Wiesner, S., Salmikangas, P., Auerbach, D., Himmel, M., Kempa, S., Hayess, K., Pacholsky, D., Taivainen, A., Schröder, R., Carpén, O., Fürst, D.O. J. Cell Biol. (2000) [Pubmed]
  32. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Bushby, K., Anderson, L.V., Pollitt, C., Naom, I., Muntoni, F., Bindoff, L. Brain (1998) [Pubmed]
  33. Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. Dinçer, P., Piccolo, F., Leturcq, F., Kaplan, J.C., Jeanpierre, M., Topaloğlu, H. Prenat. Diagn. (1998) [Pubmed]
 
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