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Volumn 68, Issue 10, 2007, Pages 772-775

Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation

Author keywords

[No Author keywords available]

Indexed keywords

TROPOMYOSIN; ARGININE; TRYPTOPHAN;

EID: 33947541830     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000256339.40667.fb     Document Type: Article
Times cited : (65)

References (10)
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  • 2
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    • Vertebrate tropomyosin: Distribution, properties and function
    • Perry SV. Vertebrate tropomyosin: distribution, properties and function. J Muscle Res Cell Motil 2001;22:5-49.
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    • Perry, S.V.1
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    • Molecular diversity of myofibrillar proteins: Gene regulation and functional significance
    • Schiaffino S, Reggiani C. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev 1996;76:371-423.
    • (1996) Physiol Rev , vol.76 , pp. 371-423
    • Schiaffino, S.1    Reggiani, C.2
  • 5
    • 0037369803 scopus 로고    scopus 로고
    • Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
    • Sung SS, Brassington AM, Grannatt K, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003;72:681-690.
    • (2003) Am J Hum Genet , vol.72 , pp. 681-690
    • Sung, S.S.1    Brassington, A.M.2    Grannatt, K.3
  • 6
    • 0036133714 scopus 로고    scopus 로고
    • Mutations in the beta-tropomyosin (TPM2) gene: A rare cause of nemaline myopathy
    • Donner K, Ollikainen M, Ridanpaa M, et al. Mutations in the beta-tropomyosin (TPM2) gene: a rare cause of nemaline myopathy. Neuromuscul Disord 2002;12:151-158.
    • (2002) Neuromuscul Disord , vol.12 , pp. 151-158
    • Donner, K.1    Ollikainen, M.2    Ridanpaa, M.3
  • 7
    • 0141535360 scopus 로고    scopus 로고
    • Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
    • Tajsharghi H, Thornell LE, Lindberg C, et al. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol 2003;54:494-500.
    • (2003) Ann Neurol , vol.54 , pp. 494-500
    • Tajsharghi, H.1    Thornell, L.E.2    Lindberg, C.3
  • 8
    • 0025807180 scopus 로고
    • Mitochondrial encephalomyopathies in childhood: I. Biochemical and morphologic investigations
    • Tulinius MH, Holme E, Kristiansson B, et al. Mitochondrial encephalomyopathies in childhood: I. Biochemical and morphologic investigations. J Pediatr 1991;119:242-250.
    • (1991) J Pediatr , vol.119 , pp. 242-250
    • Tulinius, M.H.1    Holme, E.2    Kristiansson, B.3
  • 9
    • 0034514136 scopus 로고    scopus 로고
    • Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies
    • Michele DE, Metzger JM. Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies. J Mol Med 2000;78:543-553.
    • (2000) J Mol Med , vol.78 , pp. 543-553
    • Michele, D.E.1    Metzger, J.M.2
  • 10
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    • Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    • Toydemir RM, Rutherford A, Whitby FG, et al. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-565.
    • (2006) Nat Genet , vol.38 , pp. 561-565
    • Toydemir, R.M.1    Rutherford, A.2    Whitby, F.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.