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

Distal Myopathies

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Disease relevance of Distal Myopathies


High impact information on Distal Myopathies


Chemical compound and disease context of Distal Myopathies


Biological context of Distal Myopathies

  • This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity [7].
  • Four different phenotypes have been associated with CAV3 mutations: limb girdle muscular dystrophy-1C (LGMD-1C), rippling muscle disease (RMD), and distal myopathy (DM), as well as idiopathic and familial hyperCKemia (HCK) [13].

Anatomical context of Distal Myopathies


Gene context of Distal Myopathies

  • As such, our current results may be important in understanding the pathogenesis of Cav-3-related muscle diseases, such as limb-girdle muscular dystrophy-1C, distal myopathy, and rippling muscle disease, that are caused by mutations within the human Cav-3 gene [16].
  • Mutations in the gene encoding caveolin-3 (CAV3) underlie four distinct disorders of skeletal muscle: the autosomal dominant form of limb-girdle muscular dystrophy type 1C (LGMD-1C), rippling muscle disease (RMD), sporadic and familial forms of hyperCKemia, and distal myopathy [17].
  • Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy [18].
  • The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated in some forms of hereditary distal myopathy [19].
  • We examined 19 muscle biopsies from 14 patients with autosomal recessive distal muscular dystrophy (DisMD) histochemically and immunohistochemically to characterize the histologic features of this disease and to determine whether dystrophin and dystrophin-associated proteins (DAPs) are normally present in the muscles of patients with this disorder [20].


  1. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Weiler, T., Bashir, R., Anderson, L.V., Davison, K., Moss, J.A., Britton, S., Nylen, E., Keers, S., Vafiadaki, E., Greenberg, C.R., Bushby, C.R., Wrogemann, K. Hum. Mol. Genet. (1999) [Pubmed]
  2. Consequences of a novel caveolin-3 mutation in a large German family. Fischer, D., Schroers, A., Blümcke, I., Urbach, H., Zerres, K., Mortier, W., Vorgerd, M., Schröder, R. Ann. Neurol. (2003) [Pubmed]
  3. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Tateyama, M., Aoki, M., Nishino, I., Hayashi, Y.K., Sekiguchi, S., Shiga, Y., Takahashi, T., Onodera, Y., Haginoya, K., Kobayashi, K., Iinuma, K., Nonaka, I., Arahata, K., Itoyama, Y., Itoyoma, Y. Neurology (2002) [Pubmed]
  4. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Jongen, P.J., Ter Laak, H.J., Stadhouders, A.M. Neuromuscul. Disord. (1995) [Pubmed]
  5. The role of titin in muscular disorders. Hackman, J.P., Vihola, A.K., Udd, A.B. Ann. Med. (2003) [Pubmed]
  6. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D.E., Durling, H.J., Duff, R.M., Beckman, K., de Visser, M., van der Graaff, M.M., Hedera, P., Fink, J.K., Petty, E.M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F.L., Laing, N.G. Am. J. Hum. Genet. (2004) [Pubmed]
  7. Autosomal dominant distal myopathy: linkage to chromosome 14. Laing, N.G., Laing, B.A., Meredith, C., Wilton, S.D., Robbins, P., Honeyman, K., Dorosz, S., Kozman, H., Mastaglia, F.L., Kakulas, B.A. Am. J. Hum. Genet. (1995) [Pubmed]
  8. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Schröder, R., Goudeau, B., Simon, M.C., Fischer, D., Eggermann, T., Clemen, C.S., Li, Z., Reimann, J., Xue, Z., Rudnik-Schöneborn, S., Zerres, K., van der Ven, P.F., Fürst, D.O., Kunz, W.S., Vicart, P. Hum. Mol. Genet. (2003) [Pubmed]
  9. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Sjöberg, G., Saavedra-Matiz, C.A., Rosen, D.R., Wijsman, E.M., Borg, K., Horowitz, S.H., Sejersen, T. Hum. Mol. Genet. (1999) [Pubmed]
  10. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. Noguchi, S., Keira, Y., Murayama, K., Ogawa, M., Fujita, M., Kawahara, G., Oya, Y., Imazawa, M., Goto, Y., Hayashi, Y.K., Nonaka, I., Nishino, I. J. Biol. Chem. (2004) [Pubmed]
  11. Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. Ro, L.S., Lee-Chen, G.J., Wu, Y.R., Lee, M., Hsu, P.Y., Chen, C.M. J. Neurol. Neurosurg. Psychiatr. (2005) [Pubmed]
  12. High serum levels of creatine kinase: asymptomatic prelude to distal myopathy. Galassi, G., Rowland, L.P., Hays, A.P., Hopkins, L.C., DiMauro, S. Muscle Nerve (1987) [Pubmed]
  13. Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. Sotgia, F., Woodman, S.E., Bonuccelli, G., Capozza, F., Minetti, C., Scherer, P.E., Lisanti, M.P. Am. J. Physiol., Cell Physiol. (2003) [Pubmed]
  14. Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Garvey, S.M., Senderek, J., Beckmann, J.S., Seboun, E., Jackson, C.E., Hauser, M.A. Ann. Hum. Genet. (2006) [Pubmed]
  15. A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Krause, S., Schlotter-Weigel, B., Walter, M.C., Najmabadi, H., Wiendl, H., Müller-Höcker, J., Müller-Felber, W., Pongratz, D., Lochmüller, H. Neuromuscul. Disord. (2003) [Pubmed]
  16. Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. Sotgia, F., Bonuccelli, G., Minetti, C., Woodman, S.E., Capozza, F., Kemp, R.G., Scherer, P.E., Lisanti, M.P. Am. J. Pathol. (2003) [Pubmed]
  17. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Cagliani, R., Bresolin, N., Prelle, A., Gallanti, A., Fortunato, F., Sironi, M., Ciscato, P., Fagiolari, G., Bonato, S., Galbiati, S., Corti, S., Lamperti, C., Moggio, M., Comi, G.P. Neurology (2003) [Pubmed]
  18. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. Lamont, P.J., Udd, B., Mastaglia, F.L., de Visser, M., Hedera, P., Voit, T., Bridges, L.R., Fabian, V., Rozemuller, A., Laing, N.G. J. Neurol. Neurosurg. Psychiatr. (2006) [Pubmed]
  19. Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. Mizuno, Y., Puca, A.A., O'Brien, K.F., Beggs, A.H., Kunkel, L.M. BMC Genet. (2001) [Pubmed]
  20. Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. Yamanouchi, Y., Ozawa, E., Nonaka, I. J. Neurol. Sci. (1994) [Pubmed]
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