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Clinical Genetics
Volumn 68, Issue 1, 2005, Pages 91-92
De novo α-actin mutations in monozygotic twins [2]
Author keywords

[No Author keywords available]
Indexed keywords

ALPHA ACTIN;
EID: 20944432377     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00442.x     Document Type: Letter
Times cited : (3)
References (8)
  • 1
    • 16944367068 scopus 로고    scopus 로고
    • Nemaline myopathy: Current concepts. The ENMC International Consortium and Nemaline Myopathy
    • North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet 1997: 34: 705-713.
    • (1997) J. Med. Genet. , vol.34 , pp. 705-713
    • North, K.N.1    Laing, N.G.2    Wallgren-Pettersson, C.3
  • 2
    • 0042071493 scopus 로고    scopus 로고
    • Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
    • Sparrow JC, Nowak KJ, Durling HJ et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003: 13: 519-531.
    • (2003) Neuromuscul. Disord. , vol.13 , pp. 519-531
    • Sparrow, J.C.1    Nowak, K.J.2    Durling, H.J.3
  • 3
    • 3042717143 scopus 로고    scopus 로고
    • Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations
    • Agrawal PB, Strickland CD, Midgett C et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 2004: 56: 86-96.
    • (2004) Ann. Neurol. , vol.56 , pp. 86-96
    • Agrawal, P.B.1    Strickland, C.D.2    Midgett, C.3
  • 4
    • 0034906020 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in nemaline myopathy - A disease of skeletal muscle thin filaments
    • Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001: 7: 362-368.
    • (2001) Trends Mol. Med. , vol.7 , pp. 362-368
    • Sanoudou, D.1    Beggs, A.H.2
  • 5
    • 7944233824 scopus 로고    scopus 로고
    • α-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy
    • Graziano C, Bertini E, Minetti C, Porfirio B. α-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy. Int J Mol Med 2004: 13: 805-809.
    • (2004) Int. J. Mol. Med. , vol.13 , pp. 805-809
    • Graziano, C.1    Bertini, E.2    Minetti, C.3    Porfirio, B.4
  • 6
    • 0041828261 scopus 로고    scopus 로고
    • Twinning
    • Hall JG. Twinning. Lancet 2003: 362: 735-743.
    • (2003) Lancet , vol.362 , pp. 735-743
    • Hall, J.G.1
  • 7
    • 2942590933 scopus 로고    scopus 로고
    • Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality
    • Tay SK, Shanske S, Kaplan P, DiMauro S. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Arch Neurol 2004: 61: 950-952.
    • (2004) Arch. Neurol. , vol.61 , pp. 950-952
    • Tay, S.K.1    Shanske, S.2    Kaplan, P.3    DiMauro, S.4
  • 8
    • 0032854670 scopus 로고    scopus 로고
    • Functional characterization of the Opitz syndrome gene product (midin): Evidence for homodimerization and association with microtubules throughout the cell cycle
    • Cainarca S, Messali S, Ballabio A, Meroni G. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet 1999: 8: 1387-1396.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1387-1396
    • Cainarca, S.1    Messali, S.2    Ballabio, A.3    Meroni, G.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.