The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

FKRP  -  fukutin related protein

Homo sapiens

Synonyms: Fukutin-related protein, LGMD2I, MDC1C, MDDGA5, MDDGB5, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of FKRP


Psychiatry related information on FKRP


High impact information on FKRP


Biological context of FKRP


Anatomical context of FKRP


Other interactions of FKRP

  • LAMA2 mutations were undetected in 5 patients, in 2 of whom FKRP mutations explained the phenotype [13].
  • The entire 1.5-kilobase FKRP coding sequence from patient DNA was analyzed using denaturing high-performance liquid chromatography of overlapping polymerase chain reaction products, followed by direct sequencing of heteroduplexes [3].
  • Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome [14].
  • The remaining two sons (7 and 10 years old), presented with mild decrease in stamina, had normal neuromuscular examinations and were found to be homozygous for the FKRP mutation in addition to the TRIM32 mutation [15].
  • Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity [16].


  1. 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]
  2. Glycosylation defects: a new mechanism for muscular dystrophy? Grewal, P.K., Hewitt, J.E. Hum. Mol. Genet. (2003) [Pubmed]
  3. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Boito, C.A., Melacini, P., Vianello, A., Prandini, P., Gavassini, B.F., Bagattin, A., Siciliano, G., Angelini, C., Pegoraro, E. Arch. Neurol. (2005) [Pubmed]
  4. Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. von der Hagen, M., Kaindl, A.M., Koehler, K., Mitzscherling, P., Häusler, H.J., Stoltenburg-Didinger, G., Huebner, A. Eur. J. Pediatr. (2006) [Pubmed]
  5. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Schwartz, M., Hertz, J.M., Sveen, M.L., Vissing, J. Neurology (2005) [Pubmed]
  6. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Louhichi, N., Triki, C., Quijano-Roy, S., Richard, P., Makri, S., Méziou, M., Estournet, B., Mrad, S., Romero, N.B., Ayadi, H., Guicheney, P., Fakhfakh, F. Neurogenetics (2004) [Pubmed]
  7. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Esapa, C.T., McIlhinney, R.A., Blake, D.J. Hum. Mol. Genet. (2005) [Pubmed]
  8. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Harel, T., Goldberg, Y., Shalev, S.A., Chervinski, I., Ofir, R., Birk, O.S. Eur. J. Hum. Genet. (2004) [Pubmed]
  9. EMG and nerve conduction studies in children with congenital muscular dystrophy. Quijano-Roy, S., Renault, F., Romero, N., Guicheney, P., Fardeau, M., Estournet, B. Muscle Nerve (2004) [Pubmed]
  10. Subcellular localization of fukutin and fukutin-related protein in muscle cells. Matsumoto, H., Noguchi, S., Sugie, K., Ogawa, M., Murayama, K., Hayashi, Y.K., Nishino, I. J. Biochem. (2004) [Pubmed]
  11. Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. Dolatshad, N.F., Brockington, M., Torelli, S., Skordis, L., Wever, U., Wells, D.J., Muntoni, F., Brown, S.C. Exp. Cell Res. (2005) [Pubmed]
  12. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Torelli, S., Brown, S.C., Brockington, M., Dolatshad, N.F., Jimenez, C., Skordis, L., Feng, L.H., Merlini, L., Jones, D.H., Romero, N., Wewer, U., Voit, T., Sewry, C.A., Noguchi, S., Nishino, I., Muntoni, F. Neuromuscul. Disord. (2005) [Pubmed]
  13. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Di Blasi, C., Piga, D., Brioschi, P., Moroni, I., Pini, A., Ruggieri, A., Zanotti, S., Uziel, G., Jarre, L., Della Giustina, E., Scuderi, C., Jonsrud, C., Mantegazza, R., Morandi, L., Mora, M. Arch. Neurol. (2005) [Pubmed]
  14. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Beltran-Valero de Bernabé, D., Voit, T., Longman, C., Steinbrecher, A., Straub, V., Yuva, Y., Herrmann, R., Sperner, J., Korenke, C., Diesen, C., Dobyns, W.B., Brunner, H.G., van Bokhoven, H., Brockington, M., Muntoni, F. J. Med. Genet. (2004) [Pubmed]
  15. Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. Frosk, P., Del Bigio, M.R., Wrogemann, K., Greenberg, C.R. Eur. J. Hum. Genet. (2005) [Pubmed]
  16. POMT2 mutation in a patient with 'MEB-like' phenotype. Mercuri, E., D'Amico, A., Tessa, A., Berardinelli, A., Pane, M., Messina, S., van Reeuwijk, J., Bertini, E., Muntoni, F., Santorelli, F.M. Neuromuscul. Disord. (2006) [Pubmed]
WikiGenes - Universities