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Volumn 75, Issue 8, 2004, Pages 770-775

The clinical spectrum of limb-girdle muscular dystrophies type 21 in cases of a mutation in the fukutin related protein gene;Klinisches spektrum der gliedergürtelmuskeldystrophie typ 21 bei mutation im "fukutin-related-protein"-gen

Author keywords

FKRP; LGMD2I; Limb girdle muscular dystrophies

Indexed keywords

CREATINE KINASE; FUKUTIN RELATED PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

EID: 4344644268     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (11)
  • 1
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    • Mutation in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosilation of α-Dystroglycan
    • Brockington M, Blake, DJ, Prandini P et al. (2001) Mutation in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosilation of α-Dystroglycan. Am J Hum Genet 69:1198-1209
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 2
    • 18244375299 scopus 로고    scopus 로고
    • Mutation in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C
    • Brockington M, Yuva Y, Prandini P et al. (2001) Mutation in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10:2851-2859
    • (2001) Hum Mol Genet , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3
  • 3
    • 0034214277 scopus 로고    scopus 로고
    • A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
    • Driss A, Amouri R, Ben Hamida C et al. (2000) A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord 10:240-246
    • (2000) Neuromuscul Disord , vol.10 , pp. 240-246
    • Driss, A.1    Amouri, R.2    Ben Hamida, C.3
  • 4
    • 0141925704 scopus 로고    scopus 로고
    • Glycosylation defects: A new mechanism for muscular dystrophy?
    • Grewal PK, Hewitt JE (2003) Glycosylation defects: a new mechanism for muscular dystrophy? Hum Mol Genet 12:259-264
    • (2003) Hum Mol Genet , vol.12 , pp. 259-264
    • Grewal, P.K.1    Hewitt, J.E.2
  • 5
    • 4344686445 scopus 로고    scopus 로고
    • Patient with FKRP mutation representing by exercise intolerance
    • Knirsch U, Rosenbohm A, Tumani H et al. (2003) Patient with FKRP mutation representing by exercise intolerance. Akt Neurol S1:P648
    • (2003) Akt Neurol , vol.S1
    • Knirsch, U.1    Rosenbohm, A.2    Tumani, H.3
  • 6
    • 0037380737 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations in the fukutin-related protien gene
    • Mercuri E, Brockington M, Straub V et al. (2003) Phenotypic spectrum associated with mutations in the fukutin-related protien gene. Ann Neurol 53:537-542
    • (2003) Ann Neurol , vol.53 , pp. 537-542
    • Mercuri, E.1    Brockington, M.2    Straub, V.3
  • 7
    • 0347757245 scopus 로고    scopus 로고
    • Asymptomatic carriers for homozygous novel mutations in the FKRP gene: The other end of the spectrum
    • Paula F, Vieira N, Starling A et al. (2003) Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet 11:923-930
    • (2003) Eur J Hum Genet , vol.11 , pp. 923-930
    • Paula, F.1    Vieira, N.2    Starling, A.3
  • 9
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    • The phenotype of limb-girdle muscular dystrophy type 21
    • Poppe M, Cree L, Bourke J et al. (2003) The phenotype of limb-girdle muscular dystrophy type 21. Neurology 60:1246-1251
    • (2003) Neurology , vol.60 , pp. 1246-1251
    • Poppe, M.1    Cree, L.2    Bourke, J.3
  • 10
    • 0037465832 scopus 로고    scopus 로고
    • FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
    • Topatoglu H, Brockington M, Yuva Y et al. (2003) FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60:988-992
    • (2003) Neurology , vol.60 , pp. 988-992
    • Topatoglu, H.1    Brockington, M.2    Yuva, Y.3
  • 11
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    • The 10 autosomal recessive limb-girdle muscular dystrophies
    • Zatz M, de Paula F, Starling A et al. (2003) The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 13:532-544
    • (2003) Neuromuscul Disord , vol.13 , pp. 532-544
    • Zatz, M.1    De Paula, F.2    Starling, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.