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Gene Review

FKTN  -  fukutin

Homo sapiens

Synonyms: CMD1X, FCMD, Fukutin, Fukuyama-type congenital muscular dystrophy protein, LGMD2M, ...
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Disease relevance of FCMD


Psychiatry related information on FCMD


High impact information on FCMD


Chemical compound and disease context of FCMD


Biological context of FCMD


Anatomical context of FCMD


Associations of FCMD with chemical compounds


Other interactions of FCMD


Analytical, diagnostic and therapeutic context of FCMD


  1. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Michele, D.E., Barresi, R., Kanagawa, M., Saito, F., Cohn, R.D., Satz, J.S., Dollar, J., Nishino, I., Kelley, R.I., Somer, H., Straub, V., Mathews, K.D., Moore, S.A., Campbell, K.P. Nature (2002) [Pubmed]
  2. Vascular alterations in Fukuyama type congenital muscular dystrophy. Sugino, S., Miyatake, M., Ohtani, Y., Yoshioka, K., Miike, T., Uchino, M. Brain Dev. (1991) [Pubmed]
  3. A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test. Matsumura, K., Toda, T., Hasegawa, T., Kamei, M., Imoto, N., Shimizu, T. J. Child Neurol. (1991) [Pubmed]
  4. Ocular manifestations in Fukuyama type congenital muscular dystrophy. Yoshioka, M., Kuroki, S., Kondo, T. Brain Dev. (1990) [Pubmed]
  5. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Talim, B., Ferreiro, A., Cormand, B., Vignier, N., Oto, A., Göğüş, S., Cila, A., Lehesjoki, A.E., Pihko, H., Guicheney, P., Topaloğlu, H. Neuromuscul. Disord. (2000) [Pubmed]
  6. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Toda, T., Segawa, M., Nomura, Y., Nonaka, I., Masuda, K., Ishihara, T., Sakai, M., Tomita, I., Origuchi, Y., Suzuki M [corrected to Sakai, M. Nat. Genet. (1993) [Pubmed]
  7. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Kobayashi, K., Nakahori, Y., Miyake, M., Matsumura, K., Kondo-Iida, E., Nomura, Y., Segawa, M., Yoshioka, M., Saito, K., Osawa, M., Hamano, K., Sakakihara, Y., Nonaka, I., Nakagome, Y., Kanazawa, I., Nakamura, Y., Tokunaga, K., Toda, T. Nature (1998) [Pubmed]
  8. An electron microscopical study of the T-system in biopsied muscles from Fukuyama type congenital muscular dystrophy. Miike, T., Ohtani, Y., Tamari, H., Ishitsu, T., Nonaka, I. Muscle Nerve (1984) [Pubmed]
  9. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Godfrey, C., Escolar, D., Brockington, M., Clement, E.M., Mein, R., Jimenez-Mallebrera, C., Torelli, S., Feng, L., Brown, S.C., Sewry, C.A., Rutherford, M., Shapira, Y., Abbs, S., Muntoni, F. Ann. Neurol. (2006) [Pubmed]
  10. Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Saito, Y., Yamamoto, T., Mizuguchi, M., Kobayashi, M., Saito, K., Ohno, K., Osawa, M. Brain Res. (2006) [Pubmed]
  11. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Ranta, S., Pihko, H., Santavuori, P., Tahvanainen, E., de la Chapelle, A. Neuromuscul. Disord. (1995) [Pubmed]
  12. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Saito, K., Osawa, M., Wang, Z.P., Ikeya, K., Fukuyama, Y., Kondo-Iida, E., Toda, T., Ohashi, H., Kurosawa, K., Wakai, S., Kaneko, K. Am. J. Med. Genet. (2000) [Pubmed]
  13. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Xiong, H., Kobayashi, K., Tachikawa, M., Manya, H., Takeda, S., Chiyonobu, T., Fujikake, N., Wang, F., Nishimoto, A., Morris, G.E., Nagai, Y., Kanagawa, M., Endo, T., Toda, T. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  14. Altered aquaporin 4 expression in muscles of Fukuyama-type congenital muscular dystrophy. Wakayama, Y., Jimi, T., Inoue, M., Kojima, H., Yamashita, S., Kumagai, T., Murahashi, M., Hara, H., Shibuya, S. Virchows Arch. (2003) [Pubmed]
  15. Glycosylation defects: a new mechanism for muscular dystrophy? Grewal, P.K., Hewitt, J.E. Hum. Mol. Genet. (2003) [Pubmed]
  16. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin. Yamamoto, T., Kato, Y., Kawaguchi, M., Shibata, N., Kobayashi, M. Medical electron microscopy : official journal of the Clinical Electron Microscopy Society of Japan. (2004) [Pubmed]
  17. Neuronal expression of the fukutin gene. Sasaki, J., Ishikawa, K., Kobayashi, K., Kondo-Iida, E., Fukayama, M., Mizusawa, H., Takashima, S., Sakakihara, Y., Nakamura, Y., Toda, T. Hum. Mol. Genet. (2000) [Pubmed]
  18. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Brockington, M., Blake, D.J., Prandini, P., Brown, S.C., Torelli, S., Benson, M.A., Ponting, C.P., Estournet, B., Romero, N.B., Mercuri, E., Voit, T., Sewry, C.A., Guicheney, P., Muntoni, F. Am. J. Hum. Genet. (2001) [Pubmed]
  19. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Hayashi, Y.K., Ogawa, M., Tagawa, K., Noguchi, S., Ishihara, T., Nonaka, I., Arahata, K. Neurology (2001) [Pubmed]
  20. Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy. Hino, N., Kobayashi, M., Shibata, N., Yamamoto, T., Saito, K., Osawa, M. Brain Dev. (2001) [Pubmed]
  21. Freeze-fracture analysis of cholesterol in muscle plasma membrane of Fukuyama-type congenital muscular dystrophy. Wakayama, Y., Kumagai, T., Jimi, T., Shibuya, S. Acta Neuropathol. (1987) [Pubmed]
  22. Oxidative stress in the brain of Fukuyama type congenital muscular dystrophy: immunohistochemical study on astrocytes. Yamamoto, T., Shibata, N., Kobayashi, M., Saito, K., Osawa, M. J. Child Neurol. (2002) [Pubmed]
  23. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Kato, R., Kawamura, J., Sugawara, H., Niikawa, N., Matsumoto, N. Am. J. Med. Genet. A (2004) [Pubmed]
  24. Abnormal localization of laminin subunits in muscular dystrophies. Hayashi, Y.K., Engvall, E., Arikawa-Hirasawa, E., Goto, K., Koga, R., Nonaka, I., Sugita, H., Arahata, K. J. Neurol. Sci. (1993) [Pubmed]
  25. Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis. Takai, Y., Tsutsumi, O., Harada, I., Fujii, T., Kashima, T., Kobayashi, K., Toda, T., Taketani, Y. Hum. Reprod. (1998) [Pubmed]
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