| 1 | FKRP, LGMD2I, MDC1C, WLKWS5
|
| Mutations alter secretion of fukutin-related protein.
|
| Lu PJ, Zillmer A, Wu X, Lochmuller H, Vachris J, Blake D, Chan YM, Lu QL.
|
| Biochim Biophys Acta 1802(2):253-8. Epub 2009 Nov 10.
2010
|
| 2 | FKRP, LGMD2I, MDC1C
|
| Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
|
| Esapa CT, McIlhinney RA, Blake DJ.
|
| Hum Mol Genet 14(2):295-305. Epub 2004 Dec 01. 2005
|
| 3 | FKRP, LGMD2I, MDC1C
|
| The phenotype of limb-girdle muscular dystrophy type 2I.
|
| Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K.
|
| Neurology 60(8):1246-51. 2003
|
| 4 | MDC1C, FKRP
|
| FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
|
| Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.
|
| Neurology 60(6):988-92. 2003
|
| 5 | FKRP, LGMD2I, MDC1C
|
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
|
| 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.
|
| Hum Mol Genet 10(25):2851-9. 2001
|
| 6 | FKRP, MDC1C
|
| Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
|
| Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F.
|
| Neuropediatrics 31(4):186-9. 2000
|