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Volumn 55, Issue 1, 2007, Pages 70-74

Nemaline rod myopathy: A rare form of myopathy

Author keywords

Congenital myopathies; Histochemistry; Muscle diseases; Nemaline rod myopathy; Ultrastructure

Indexed keywords

ALPHA ACTININ; CREATINE KINASE;

EID: 33846965567     PISSN: 00283886     EISSN: None     Source Type: Journal    
DOI: 10.4103/0028-3886.30433     Document Type: Article
Times cited : (11)

References (14)
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  • 2
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    • Clinical and genetic heterogeneity in nemaline myopathy-A disease of skeletal muscle thin filaments
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  • 3
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    • Nemaline myopathy. A new congenital myopathy
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  • 4
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    • Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness
    • Conen PE, Murphy EG, Donohue WL. Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness. Can Med Assoc J 1963;89:983-6.
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  • 5
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    • An artefact gone awry': Identification of the first case of nemaline myopathy by Dr R.D.K. Reye
    • Schell C, Kan A, North KN. 'An artefact gone awry': Identification of the first case of nemaline myopathy by Dr R.D.K. Reye.. Neuromuscul Disord 2000;10:307-12.
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    • Schell, C.1    Kan, A.2    North, K.N.3
  • 6
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  • 8
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    • Nemaline cardiomyopathy in a young adult: An ultraimmunohistochemical study and review of the literature
    • Muller-Hocker J, Schafer S, Mendel B, Lochmuller H, Pongratz D. Nemaline cardiomyopathy in a young adult: An ultraimmunohistochemical study and review of the literature. Ultrastruct Pathol 2000;24:407-16.
    • (2000) Ultrastruct Pathol , vol.24 , pp. 407-416
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  • 9
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    • A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
    • Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, et al. A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet 1995;9:75-9.
    • (1995) Nat Genet , vol.9 , pp. 75-79
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    • Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
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    • Functional characterization of a mutant actin (Met132Val) from a patient with nemaline myopathy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.