DOI: 10.1136/jnnp.56.6.644. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

10.1136/jnnp.56.6.644

Crossref journal-article

BMJ

Journal of Neurology, Neurosurgery & Psychiatry (239)

Bibliography

Vajsar, J., Becker, L. E., Freedom, R. M., & Murphy, E. G. (1993). Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. Journal of Neurology, Neurosurgery & Psychiatry, 56(6), 644â648.

Authors 4

J Vajsar (first)
L E Becker (additional)
R M Freedom (additional)
E G Murphy (additional)

References 16 Referenced 45

Steinert PM, Roop DR. Molecular and cellular biology of intermediate filaments. Annual Review Biochemistry 1988;57:593-625. (10.1146/annurev.bi.57.070188.003113) / Annual Review Biochemistry / Molecular and cellular biology of intermediate filaments (1988)
Thornell L-E. Immunohistochemistry of intermediate filaments [abstract]. JNeurol Sci 1990;98 (Suppl):58. / JNeurol Sci / Immunohistochemistry of intermediate filaments by Thornell, L.-E. (1990)
Granger BL, Lazarides E. The existence of an insoluble Z disc scaffold in chicken skeletal muscle. Cell 1978; 15:1253-68. (10.1016/0092-8674(78)90051-X) / Cell / The existence of an insoluble Z disc scaffold in chicken skeletal muscle by Granger, B.L.; Lazarides, E. (1978)
Truong LD, Rangdaeng S, Cagle P, Ro JY, Hawkins H, Font RL. The diagnostic utility of desmin. A study of 584 cases and review of the literature. Am J Clin Pathol 1990;93:305-14. (10.1093/ajcp/93.3.305) / Am J Clin Pathol / The diagnostic utility of desmin. A study of 584 cases and review of the literature by Truong, L.D.; Rangdaeng, S.; Cagle, P.; Ro, J.Y.; Hawkins, H.; Font, R.L. (1990)
Bornemann A, Schmalbruch H. The intracellular distribution of desmin and vimentin in regenerating rat muscles [abstract]. J Neurol Sci 1990;98:(Suppl):294. / J Neurol Sci / The intracellular distribution of desmin and vimentin in regenerating rat muscles by Bornemann, A.; Schmalbruch, H. (1990)
Pellissier JF, Pouget J, Charpin C, Figarella D. Myopathy associated with desmin type intermediate filaments. An immunoelectron microscopic study. J Neurol Sci 1989; 89:49-61. (10.1016/0022-510X(89)90006-3) / J Neurol Sci / Myopathy associated with desmin type intermediate filaments. An immunoelectron microscopic study by Pellissier, J.F.; Pouget, J.; Charpin, C.; Figarella, D. (1989)
Calderon A, Becker LE, Murphy GE. Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity. PediatrNeurosci 1987;13:108-12. / PediatrNeurosci / Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity by Calderon, A.; Becker, L.E.; Murphy, G.E. (1987)
Shafiq SA, Sande MA, Carruthers RR, Killip T, Milhorat AT. Skeletal muscle in idiopathic cardiomyopathy. J Neurol Sci 1972;15:303-20. (10.1016/0022-510X(72)90072-X) / J Neurol Sci / Skeletal muscle in idiopathic cardiomyopathy by Shafiq, S.A.; Sande, M.A.; Carruthers, R.R.; Killip, T.; Milhorat, A.T. (1972)
Fardeau M, Godet-Guillain J, Tome FMS, et al. Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique. Rev Neurol (Paris) 1978;134:411-25. / Rev Neurol (Paris) / Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique by Fardeau, M.; Godet-Guillain, J.; Tome, F.M.S. (1978)
Goebel HH, Lenard HG, Langenbeck U, Mehl B. A form of congenital muscular dystrophy. Brain Dev 1980;2: 387-400. (10.1016/S0387-7604(80)80052-0) / Brain Dev / A form of congenital muscular dystrophy by Goebel, H.H.; Lenard, H.G.; Langenbeck, U.; Mehl, B. (1980)
Edstrom L, Thornell L-E, Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. Jf Neurol Sci 1980;47:171-90. (10.1016/0022-510X(80)90002-7) / Jf Neurol Sci / A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments by Edstrom, L.; Thornell, L.-E.; Eriksson, A. (1980)
Sarnat HB. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci 1990;17:109-23. (10.1017/S0317167100030304) / Can J Neurol Sci / Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle by Sarnat, H.B. (1990)
Jakobsson F, Borg K, Edstrom L. Fibre-type composition, structure and cytoskeletal protein location of fibres in anterior tibial muscle. Comparison between young adults and physically active aged humans. Acta Neuropathol (Berl) 1990;80:459-68. (10.1007/BF00294604) / Acta Neuropathol (Berl) / Fibre-type composition, structure and cytoskeletal protein location of fibres in anterior tibial muscle. Comparison between young adults and physically active aged humans by Jakobsson, F.; Borg, K.; Edstrom, L. (1990)
Tassin AM, Pinion-Raymond M, Paulin D, Rieger F. Unusual organization of desmin intermediate filaments in muscular dysgenesis and TTX-treated myotubes. Dev Biol 1988;129:37-47. (10.1016/0012-1606(88)90159-5) / Dev Biol / Unusual organization of desmin intermediate filaments in muscular dysgenesis and TTX-treated myotubes by Tassin, A.M.; Pinion-Raymond, M.; Paulin, D.; Rieger, F. (1988)
Lowe J, Blanchard A, Morrell K, et al. Ubiquitin is a common factor in intermediate filament inclusion bodies of diverse type in man, including those of Parkinson's disease, Pick's disease, and Alzheimer's disease, as well as Rosenthal fibres in cerebellar astrocytoma, cytoplasmic bodies in muscle, and Mallory bodies in alcoholic liver disease. JPathol 1988;155:9-15. (10.1002/path.1711550105) / JPathol / Ubiquitin is a common factor in intermediate filament inclusion bodies of diverse type in man, including those of Parkinson's disease, Pick's disease, and Alzheimer's disease, as well as Rosenthal fibres in cerebellar astrocytoma, cytoplasmic bodies in muscle, and Mallory bodies in alcoholic liver disease by Lowe, J.; Blanchard, A.; Morrell, K. (1988)
Viegas-Pequignot E, Li ZL, Dutrillaux B, Apiou F, Paulin D. Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization. Hum Genet 1989; 83:33-6. (10.1007/BF00274143) / Hum Genet / Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization by Viegas-Pequignot, E.; Li, Z.L.; Dutrillaux, B.; Apiou, F.; Paulin, D. (1989)

Dates

Type	When
Created	16 years, 9 months ago (Nov. 10, 2008, 5:20 p.m.)
Deposited	4 years, 11 months ago (Sept. 25, 2020, 10:44 p.m.)
Indexed	1 month, 3 weeks ago (July 2, 2025, 2:46 p.m.)
Issued	32 years, 2 months ago (June 1, 1993)
Published	32 years, 2 months ago (June 1, 1993)
Published Print	32 years, 2 months ago (June 1, 1993)

Funders 0

None

BibTeX

@article{Vajsar_1993, title={Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.}, volume={56}, ISSN={0022-3050}, url={http://dx.doi.org/10.1136/jnnp.56.6.644}, DOI={10.1136/jnnp.56.6.644}, number={6}, journal={Journal of Neurology, Neurosurgery & Psychiatry}, publisher={BMJ}, author={Vajsar, J and Becker, L E and Freedom, R M and Murphy, E G}, year={1993}, month=jun, pages={644–648} }

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