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PubMed (OMIM) for id: 335764
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New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2.
Neurogenetics. 2004.
PMID: 14652796
Free PMC article.
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F.
Mercuri E, et al.
Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559.
Ann Neurol. 2003.
PMID: 12666124
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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.
Topaloglu H, et al.
Neurology. 2003 Mar 25;60(6):988-92. doi: 10.1212/01.wnl.0000052996.14099.dc.
Neurology. 2003.
PMID: 12654965
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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.
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.
Brockington M, et al.
Am J Hum Genet. 2001 Dec;69(6):1198-209. doi: 10.1086/324412. Epub 2001 Oct 8.
Am J Hum Genet. 2001.
PMID: 11592034
Free PMC article.
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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 AE, Pihko H, Guicheney P, Topaloğlu H.
Talim B, et al.
Neuromuscul Disord. 2000 Dec;10(8):548-52. doi: 10.1016/s0960-8966(00)00140-1.
Neuromuscul Disord. 2000.
PMID: 11053680
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