| 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, 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | LGMD2H, LGMD2I
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| Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.
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| Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR.
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| Eur J Hum Genet 13(8):978-82. 2005
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | LGMD2I
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| Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.
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| Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dubowitz V.
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| Neuromuscul Disord 7(2):85-9. 1997
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