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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Myopathies, Nemaline

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Disease relevance of Myopathies, Nemaline


High impact information on Myopathies, Nemaline


Chemical compound and disease context of Myopathies, Nemaline

  • Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain band, with a migration rate and antigenic properties identical to that of the adult slow form, as demonstrated by Western blot techniques and by using specific antibody [10].
  • Further investigations of carnitine metabolism in patients with nemaline myopathy may shed light on the pathogenesis of this entity [11].
  • The other two had a congenital neuromuscular disorder (one central core disease, one nemaline myopathy) with type I fiber predominance (type I muscle fibers are characterized by a high oxidative metabolism and a low lactic acid production) [12].
  • Although one case report describes the use of succinylcholine and pancuronium in a patient with nemaline rod myopathy, we feel that neuromuscular blocking agents should be avoided where possible and only used with careful monitoring [13].

Biological context of Myopathies, Nemaline


Anatomical context of Myopathies, Nemaline


Gene context of Myopathies, Nemaline


Analytical, diagnostic and therapeutic context of Myopathies, Nemaline


  1. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Scacheri, P.C., Hoffman, E.P., Fratkin, J.D., Semino-Mora, C., Senchak, A., Davis, M.R., Laing, N.G., Vedanarayanan, V., Subramony, S.H. Neurology (2000) [Pubmed]
  2. Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. Harati, Y., Niakan, E., Bloom, K., Casar, G. J. Neurol. Neurosurg. Psychiatr. (1987) [Pubmed]
  3. Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion. Miike, T., Ohtani, Y., Tamari, H., Ishitsu, T., Une, Y. Brain Dev. (1986) [Pubmed]
  4. Adult onset of nemaline myopathy presenting as respiratory insufficiency. Falgà-Tirado, C., Pérez-Pemán, P., Ordi-Ros, J., Bofill, J.M., Balcells, E. Respiration; international review of thoracic diseases. (1995) [Pubmed]
  5. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. Nat. Genet. (1995) [Pubmed]
  6. Nemaline myopathy presenting as cardiomyopathy. Meier, C., Gertsch, M., Zimmerman, A., Voellmy, W., Geissbühler, J. N. Engl. J. Med. (1983) [Pubmed]
  7. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. Michele, D.E., Albayya, F.P., Metzger, J.M. J. Clin. Invest. (1999) [Pubmed]
  8. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Johnston, J.J., Kelley, R.I., Crawford, T.O., Morton, D.H., Agarwala, R., Koch, T., Schäffer, A.A., Francomano, C.A., Biesecker, L.G. Am. J. Hum. Genet. (2000) [Pubmed]
  9. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Pelin, K., Hilpelä, P., Donner, K., Sewry, C., Akkari, P.A., Wilton, S.D., Wattanasirichaigoon, D., Bang, M.L., Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J.A., Muntoni, F., Dubowitz, V., Beggs, A.H., Laing, N.G., Labeit, S., de la Chapelle, A., Wallgren-Pettersson, C. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  10. Slow myosin heavy chain isozyme in nemaline myopathy. Biral, D., Damiani, E., Margreth, A., Scarpini, E., Scarlato, G. Neurology (1985) [Pubmed]
  11. Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. Buxmann, H., Schlösser, R., Schlote, W., Sewell, A., Nowak, K.J., Laing, N.G., Loewenich, V. Neuropediatrics. (2001) [Pubmed]
  12. MR imaging as a potential diagnostic test for metabolic myopathies: importance of variations in the T2 of muscle with exercise. Jehenson, P., Leroy-Willig, A., de Kerviler, E., Duboc, D., Syrota, A. AJR. American journal of roentgenology. (1993) [Pubmed]
  13. Anaesthetic implications of nemaline rod myopathy. Cunliffe, M., Burrows, F.A. Canadian Anaesthetists' Society journal. (1985) [Pubmed]
  14. Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. Pelin, K., Ridanpää, M., Donner, K., Wilton, S., Krishnarajah, J., Laing, N., Kolmerer, B., Millevoi, S., Labeit, S., de la Chapelle, A., Wallgren-Petterson, C. Eur. J. Hum. Genet. (1997) [Pubmed]
  15. Gene-related protein surplus myopathies. Goebel, H.H., Warlo, I. Mol. Genet. Metab. (2000) [Pubmed]
  16. A new phenotype of autosomal dominant nemaline myopathy. Gommans, I.M., van Engelen, B.G., ter Laak, H.J., Brunner, H.G., Kremer, H., Lammens, M., Vogels, O.J. Neuromuscul. Disord. (2002) [Pubmed]
  17. Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. Pourmand, R., Azzarelli, B. Muscle Nerve (1994) [Pubmed]
  18. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Ilkovski, B., Nowak, K.J., Domazetovska, A., Maxwell, A.L., Clement, S., Davies, K.E., Laing, N.G., North, K.N., Cooper, S.T. Hum. Mol. Genet. (2004) [Pubmed]
  19. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Donner, K., Ollikainen, M., Ridanpää, M., Christen, H.J., Goebel, H.H., de Visser, M., Pelin, K., Wallgren-Pettersson, C. Neuromuscul. Disord. (2002) [Pubmed]
  20. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Sarnat, H.B. Neurology (1992) [Pubmed]
  21. Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. Schröder, R., Reimann, J., Salmikangas, P., Clemen, C.S., Hayashi, Y.K., Nonaka, I., Arahata, K., Carpén, O. Neuromuscul. Disord. (2003) [Pubmed]
  22. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Davis, M.R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., Sánchez, A., Walsh, P., Nagarajan, L., Oley, C., Colley, A., Gedeon, A., Quinlivan, R., Dixon, J., James, D., Müller, C.R., Laing, N.G. Neuromuscul. Disord. (2003) [Pubmed]
  23. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Wallgren-Pettersson, C., Jasani, B., Newman, G.R., Morris, G.E., Jones, S., Singhrao, S., Clarke, A., Virtanen, I., Holmberg, C., Rapola, J. Neuromuscul. Disord. (1995) [Pubmed]
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