| 1 | FKRP, LGMD2I
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| Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.
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| Palmieri A, Manara R, Bello L, Mento G, Lazzarini L, Borsato C, Bortolussi L, Angelini C, Pegoraro E.
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| J Neurol Neurol. 2011 Feb 4. [Epub ahead of print]
2011
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| 2 | FKRP, WLKWS5
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| A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
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| Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA.
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| Clin Genet 78(3):275-81. Epub 2010 Feb 11. 2010
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| 3 | FKRP, LGMD2I, MDC1C, WLKWS5
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| Mutations alter secretion of fukutin-related protein.
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| Lu PJ, Zillmer A, Wu X, Lochmuller H, Vachris J, Blake D, Chan YM, Lu QL.
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| Biochim Biophys Acta 1802(2):253-8. Epub 2009 Nov 10.
2010
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| 4 | FKRP
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| Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
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| Chan YM, Keramaris-Vrantsis E, Lidov HG, Norton JH, Zinchenko N, Gruber HE, Thresher R, Blake DJ, Ashar J, Rosenfeld J, Lu QL.
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| Hum Mol Genet 19(20):3995-4006. Epub 2010 Jul 30.
2010
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| 5 | FKRP, WLKWS5
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| A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
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| Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA.
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| Clin Genet 78(3):275-81. Epub 2010 Feb 11.
2010
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| 6 | FKRP, LGMD2I
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| Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.
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| Bourteel H, Vermersch P, Cuisset JM, Maurage CA, Laforet P, Richard P, Stojkovic T.
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| J Neurol Neurosurg Psychiatry 80(12):1405-8.
2009
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| 7 | FKRP, LGMD2I
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| Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
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| Ackroyd MR, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy RJ, Muntoni F, Brown SC.
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| Brain 132(Pt 2):439-51. Epub 2009 Jan 20.
2009
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| 8 | FKRP
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| Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex.
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| Beedle AM, Nienaber PM, Campbell KP.
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| J Biol Chem 282(23):16713-7. Epub 2007 Apr 23. 2007
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| 9 | FKRP, LGMD2I
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| A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
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| Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, Jong YJ.
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| Brain Dev 29(4):234-8. Epub 2006 Oct 20.
2007
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| 10 | FCMD, FKRP, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Muscular dystrophies due to defective glycosylation of dystroglycan.
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| Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.
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| Acta Myol 26(3):129-35. Review. 2007
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| 11 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 12 | FKRP, LGMD2I, MDC1C
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| Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
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| Esapa CT, McIlhinney RA, Blake DJ.
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| Hum Mol Genet 14(2):295-305. Epub 2004 Dec 01. 2005
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| 13 | FKRP, LGMD2I
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| The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
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| Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.
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| Hum Mutat 25(1):38-44. 2005
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| 14 | FKRP, LGMD2I
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| Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.
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| Muller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S.
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| Neuromuscul Disord 15(5):372-6. 2005
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| 15 | FKRP, LGMD2I
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| Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
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| Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.
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| Arch Neurol 62(12):1894-9. 2005
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| 16 | FKRP, FKTN
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| Subcellular localization of fukutin and fukutin-related protein in muscle cells.
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| Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi YK, Nishino I.
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| J Biochem (Tokyo) 135(6):709-12. 2004
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| 17 | FKRP, WLKWS4, WLKWS5
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| Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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| Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F.
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| J Med Genet 41(5):e61. No abstract available. 2004
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| 18 | FKRP, LGMD2I, MDC1C
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| The phenotype of limb-girdle muscular dystrophy type 2I.
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| Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K.
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| Neurology 60(8):1246-51. 2003
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| 19 | MDC1C, FKRP
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| FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
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| Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.
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| Neurology 60(6):988-92. 2003
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| 20 | FKRP
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| Functional requirements for fukutin-related protein in the Golgi apparatus.
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| Esapa CT, Benson MA, Schroder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kroger S, Blake DJ.
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| Hum Mol Genet 11(26):3319-31. 2002
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| 21 | FKRP
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| 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.
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| Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.
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| Am J Hum Genet 69(6):1198-209. 2001
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| 22 | FKRP, LGMD2I, MDC1C
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| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
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| Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.
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| Hum Mol Genet 10(25):2851-9. 2001
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| 23 | FKRP, MDC1C
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| Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
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| Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F.
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| Neuropediatrics 31(4):186-9. 2000
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