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Volumn 64, Issue 9, 2007, Pages 1334-1338

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the β-tropomyosin gene (TPM2)

Author keywords

[No Author keywords available]

Indexed keywords

BETA TROPOMYOSIN; COMPLEMENTARY DNA; DNA; TROPOMYOSIN; UNCLASSIFIED DRUG;

EID: 34548650911     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.9.1334     Document Type: Article
Times cited : (75)

References (10)
  • 1
    • 16944367068 scopus 로고    scopus 로고
    • North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: current concepts: the ENMC International Consortium and Nemaline Myopathy [published correction appears in J Med Genet. 1997;34(10):879]. J Med Genet. 1997;34(9):705-713.
    • North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: current concepts: the ENMC International Consortium and Nemaline Myopathy [published correction appears in J Med Genet. 1997;34(10):879]. J Med Genet. 1997;34(9):705-713.
  • 3
    • 0037105988 scopus 로고    scopus 로고
    • Cap disease - a failure in the correct muscle fibre formation
    • Fidziańska A. "Cap disease" - a failure in the correct muscle fibre formation. J Neurol Sci. 2002;201(1-2):27-31.
    • (2002) J Neurol Sci , vol.201 , Issue.1-2 , pp. 27-31
    • Fidziańska, A.1
  • 5
    • 33947541830 scopus 로고    scopus 로고
    • Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation
    • Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation. Neurology. 2007;68(10):772-775.
    • (2007) Neurology , vol.68 , Issue.10 , pp. 772-775
    • Tajsharghi, H.1    Kimber, E.2    Holmgren, D.3    Tulinius, M.4    Oldfors, A.5
  • 6
    • 0034841005 scopus 로고    scopus 로고
    • Vertebrate tropomyosin: Distribution, properties and function
    • Perry SV. Vertebrate tropomyosin: distribution, properties and function. J Muscle Res Cell Motil. 2001;22(1):5-49.
    • (2001) J Muscle Res Cell Motil , vol.22 , Issue.1 , pp. 5-49
    • Perry, S.V.1
  • 7
    • 0036133714 scopus 로고    scopus 로고
    • Mutations in the β-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy
    • Donner K, Ollikainen M, Ridanpää M, et al. Mutations in the β-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy. Neuromuscul Disord. 2002;12(2):151-158.
    • (2002) Neuromuscul Disord , vol.12 , Issue.2 , pp. 151-158
    • Donner, K.1    Ollikainen, M.2    Ridanpää, M.3
  • 8
    • 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(3):681-690.
    • (2003) Am J Hum Genet , vol.72 , Issue.3 , pp. 681-690
    • Sung, S.S.1    Brassington, A.M.2    Grannatt, K.3
  • 9
    • 0037465365 scopus 로고    scopus 로고
    • Clinical course correlates poorly with muscle pathology in nemaline myopathy
    • Ryan MM, Ilkovski B, Strickland CD, et al. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology. 2003;60(4):665-673.
    • (2003) Neurology , vol.60 , Issue.4 , pp. 665-673
    • Ryan, M.M.1    Ilkovski, B.2    Strickland, C.D.3
  • 10
    • 34249049197 scopus 로고    scopus 로고
    • Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
    • Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007;17(6):433-442.
    • (2007) Neuromuscul Disord , vol.17 , Issue.6 , pp. 433-442
    • Lehtokari, V.L.1    Ceuterick-de Groote, C.2    de Jonghe, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.