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Volumn 125, Issue 1, 2013, Pages 169-171

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

EID: 84872315953     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1049-6     Document Type: Letter
Times cited : (14)

References (8)
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    • A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
    • 16483543 10.1016/j.bbrc.2006.01.152 1:CAS:528:DC%2BD28XhvVeiu7Y%3D
    • Cassandrini D, Calevo MG, Tessa A et al (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochem Biophys Res Commun 342:387-393
    • (2006) Biochem Biophys Res Commun , vol.342 , pp. 387-393
    • Cassandrini, D.1    Calevo, M.G.2    Tessa, A.3
  • 2
    • 83455171580 scopus 로고    scopus 로고
    • Congenital fiber-type disproportion
    • 22172422 10.1016/j.spen.2011.10.008
    • Clarke NF (2011) Congenital fiber-type disproportion. Semin Pediatr Neurol 18:264-271
    • (2011) Semin Pediatr Neurol , vol.18 , pp. 264-271
    • Clarke, N.F.1
  • 4
    • 34249095159 scopus 로고    scopus 로고
    • Cap disease uncapped
    • 17434306 10.1016/j.nmd.2007.03.011
    • Goebel HH (2007) Cap disease uncapped. Neuromuscul Disord 17:429-432
    • (2007) Neuromuscul Disord , vol.17 , pp. 429-432
    • Goebel, H.H.1
  • 5
    • 34249049197 scopus 로고    scopus 로고
    • Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
    • 17434307 10.1016/j.nmd.2007.02.015
    • Lehtokari VL, Ceuterick-de Groote C, de Jonghe P et al (2007) Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 17:433-442
    • (2007) Neuromuscul Disord , vol.17 , pp. 433-442
    • Lehtokari, V.L.1    Ceuterick-De Groote, C.2    De Jonghe, P.3
  • 6
    • 79959642268 scopus 로고    scopus 로고
    • SEPN1-related myopathies: Clinical course in a large cohort of patients
    • 21670436 10.1212/WNL.0b013e31821f467c 1:STN:280:DC%2BC3Mngt1GrsA%3D%3D
    • Scoto M, Cirak S, Mein R et al (2011) SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 76:2073-2078
    • (2011) Neurology , vol.76 , pp. 2073-2078
    • Scoto, M.1    Cirak, S.2    Mein, R.3
  • 7
    • 34548650911 scopus 로고    scopus 로고
    • Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)
    • 17846275 10.1001/archneur.64.9.1334
    • Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A (2007) Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol 64:1334-1338
    • (2007) Arch Neurol , vol.64 , pp. 1334-1338
    • Tajsharghi, H.1    Ohlsson, M.2    Lindberg, C.3    Oldfors, A.4
  • 8
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    • Myopathies associated with β-tropomyosin mutations
    • 10.1016/j.nmd.2012.05.018 22749895
    • Tajsharghi H, Ohlsson M, Palm L, Oldfors A (2012) Myopathies associated with β-tropomyosin mutations. Neuromuscul Disord. doi: 10.1016/j.nmd.2012. 05.018
    • (2012) Neuromuscul Disord
    • Tajsharghi, H.1    Ohlsson, M.2    Palm, L.3    Oldfors, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.