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Goldfarb, L. G., Park, K.-Y., Cervenáková, L., Gorokhova, S., Lee, H.-S., Vasconcelos, O., Nagle, J. W., Semino-Mora, C., Sivakumar, K., & Dalakas, M. C. (1998). Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nature Genetics, 19(4), 402–403.

Authors 10
  1. Lev G. Goldfarb (first)
  2. Kye-Yoon Park (additional)
  3. Larisa Cervenáková (additional)
  4. Svetlana Gorokhova (additional)
  5. Hee-Suk Lee (additional)
  6. Olavo Vasconcelos (additional)
  7. James W. Nagle (additional)
  8. Christina Semino-Mora (additional)
  9. Kumaraswamy Sivakumar (additional)
  10. Marinos C. Dalakas (additional)
References 11 Referenced 412
  1. Fardeau, M. et al. Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarcoplasmique d'un materiel granulofilamentaire dense en microscopie electronique. Rev. Neurol. (Paris) 134, 411–425 (1978). / Rev. Neurol. (Paris) by M Fardeau (1978)
  2. Goebel, H.H., Muller, J., Gillen, H.W. & Merritt, A.D. Autosomal dominant "spheroid body myopathy". Muscle Nerve 1, 14–26 (1978). (10.1002/mus.880010104) / Muscle Nerve by HH Goebel (1978)
  3. Horowitz, S.H. & Schmalbruch, H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 17, 151– 160 (1994). (10.1002/mus.880170204) / Muscle Nerve by SH Horowitz (1994)
  4. Goebel, H.H. Desmin-related neuromuscular disorders. Muscle Nerve 18, 1306–1320 (1995). (10.1002/mus.880181114) / Muscle Nerve by HH Goebel (1995)
  5. Vicart, P. et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum. Genet. 98, 422–429 (1996). (10.1007/s004390050233) / Hum. Genet by P Vicart (1996)
  6. Fuchs, E. & Weber, K. Intermediate filaments: structure, dynamics, function, and disease. Annu. Rev. Biochem. 63, 345–382 (1994). (10.1146/annurev.bi.63.070194.002021) / Annu. Rev. Biochem by E Fuchs (1994)
  7. Raats, J.M. et al. Assembly of carboxy-terminally deleted desmin in vimentin-free cells. Eur. J. Cell Biol. 56, 84–103 (1991). / Eur. J. Cell Biol. by JM Raats (1991)
  8. Raats, J.M. et al. Muscle-specific expression of a dominant negative desmin mutant in transgenic mice. Eur. J. Cell Biol. 71, 221– 236 (1996). / Eur. J. Cell Biol. by JM Raats (1996)
  9. Yu, K.R. et al. Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases. Proc. Natl Acad. Sci. USA 91, 2497–2501 ( 1994). (10.1073/pnas.91.7.2497) / Proc. Natl Acad. Sci. USA by KR Yu (1994)
  10. Letai, A., Coulombe, P.A. & Fuchs, E. Do ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J. Cell Biol. 116, 1181–1195 ( 1992). (10.1083/jcb.116.5.1181) / J. Cell Biol. by A Letai (1992)
  11. Nakano, S., Engel, A.G., Waclawik, A.J., Emslie-Smith, A.M. & Busis, N.A. Myofibrillar myopathy with abnormal foci of desmin positivity. 1.Light and electron microscopy analysis of 10 cases. J. Neuropathol. Exp. Neurol. 55, 549– 562 (1996). (10.1097/00005072-199605000-00008) / J. Neuropathol. Exp. Neurol by S Nakano (1996)
Dates
Type When
Created 23 years ago (July 26, 2002, 4:34 a.m.)
Deposited 3 years, 8 months ago (Dec. 1, 2021, 2:06 p.m.)
Indexed 2 weeks ago (Aug. 6, 2025, 9:54 a.m.)
Issued 27 years ago (Aug. 1, 1998)
Published 27 years ago (Aug. 1, 1998)
Published Print 27 years ago (Aug. 1, 1998)
Funders 0

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@article{Goldfarb_1998, title={Missense mutations in desmin associated with familial cardiac and skeletal myopathy}, volume={19}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/1300}, DOI={10.1038/1300}, number={4}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Goldfarb, Lev G. and Park, Kye-Yoon and Cervenáková, Larisa and Gorokhova, Svetlana and Lee, Hee-Suk and Vasconcelos, Olavo and Nagle, James W. and Semino-Mora, Christina and Sivakumar, Kumaraswamy and Dalakas, Marinos C.}, year={1998}, month=aug, pages={402–403} }