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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.
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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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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