메뉴 건너뛰기




Volumn 60, Issue 4, 2003, Pages 665-673

Clinical course correlates poorly with muscle pathology in nemaline myopathy

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; GLYCOGEN; TROPOMYOSIN;

EID: 0037465365     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000046585.81304.BC     Document Type: Article
Times cited : (114)

References (24)
  • 2
    • 0028852835 scopus 로고
    • A mutation in the alphatropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
    • Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alphatropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;9:75-79.
    • (1995) Nat Genet , vol.9 , pp. 75-79
    • Laing, N.G.1    Wilton, S.D.2    Akkari, P.A.3
  • 3
    • 13044312720 scopus 로고    scopus 로고
    • Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    • Pelin K, Hilpela P, Donner K, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96:2305-2310.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2305-2310
    • Pelin, K.1    Hilpela, P.2    Donner, K.3
  • 4
    • 0032858915 scopus 로고    scopus 로고
    • Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
    • Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-212.
    • (1999) Nat Genet , vol.23 , pp. 208-212
    • Nowak, K.J.1    Wattanasirichaigoon, D.2    Goebel, H.H.3
  • 5
    • 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;12:151-158.
    • (2002) Neuromuscul Disord , vol.12 , pp. 151-158
    • Donner, K.1    Ollikainen, M.2    Ridanpää, M.3
  • 6
    • 0033799745 scopus 로고    scopus 로고
    • A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
    • Johnston JJ, Kelley RI, Crawford TO, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000;67:814-821.
    • (2000) Am J Hum Genet , vol.67 , pp. 814-821
    • Johnston, J.J.1    Kelley, R.I.2    Crawford, T.O.3
  • 7
    • 0014185829 scopus 로고
    • Nemaline myopathy: Report of a fatal case, with histochemical and electron microscopic studies
    • Shafiq SA, Dubowitz V, Peterson H deC, Milhorat AT, Nemaline myopathy: report of a fatal case, with histochemical and electron microscopic studies. Brain 1967;90:817-828.
    • (1967) Brain , vol.90 , pp. 817-828
    • Shafiq, S.A.1    Dubowitz, V.2    De Peterson, H.C.3    Milhorat, A.T.4
  • 8
    • 0024533110 scopus 로고
    • Nemaline myopathy: Comparative muscle histochemistry in the severe neonatal, moderate congenital, and adultonset forms
    • Shimomura C, Nonaka I. Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adultonset forms. Pediatr Neurol 1989;1:25-31.
    • (1989) Pediatr Neurol , vol.1 , pp. 25-31
    • Shimomura, C.1    Nonaka, I.2
  • 9
    • 0027482809 scopus 로고
    • Intranuclear rods in severe congenital nemaline myopathy
    • Rifai Z, Kazee AM, Kamp C, Griggs RC. Intranuclear rods in severe congenital nemaline myopathy. Neurology 1993;43:2372-2377.
    • (1993) Neurology , vol.43 , pp. 2372-2377
    • Rifai, Z.1    Kazee, A.M.2    Kamp, C.3    Griggs, R.C.4
  • 12
    • 0025687365 scopus 로고
    • Respiratory muscle involvement in nemaline myopathy
    • Sasaki M, Yoneyama H, Nonaka I. Respiratory muscle involvement in nemaline myopathy. Pediatr Neurol 1990;6:425-427.
    • (1990) Pediatr Neurol , vol.6 , pp. 425-427
    • Sasaki, M.1    Yoneyama, H.2    Nonaka, I.3
  • 13
    • 0023872222 scopus 로고
    • Pathology of congenital nemaline myopathy. A follow-up study
    • Wallgren-Pettersson C, Rapola J, Donner M. Pathology of congenital nemaline myopathy. A follow-up study. J Neurol Sci 1988;83:243-257.
    • (1988) J Neurol Sci , vol.83 , pp. 243-257
    • Wallgren-Pettersson, C.1    Rapola, J.2    Donner, M.3
  • 14
    • 0034848843 scopus 로고    scopus 로고
    • Nemaline myopathy: A clinical study of 143 cases
    • Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50:312-320.
    • (2001) Ann Neurol , vol.50 , pp. 312-320
    • Ryan, M.M.1    Schnell, C.2    Strickland, C.D.3
  • 15
    • 0014530789 scopus 로고
    • The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies
    • Brooke MH, Engel WK. The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. Neurology 1969;19:591-605.
    • (1969) Neurology , vol.19 , pp. 591-605
    • Brooke, M.H.1    Engel, W.K.2
  • 16
    • 0034992606 scopus 로고    scopus 로고
    • Nemaline myopathy caused by mutations in the muscle a-skeletal-actin gene
    • Ilkovski B, Cooper ST, Nowak K, et al. Nemaline myopathy caused by mutations in the muscle a-skeletal-actin gene. Am J Hum Genet 2001;68:1333-1343.
    • (2001) Am J Hum Genet , vol.68 , pp. 1333-1343
    • Ilkovski, B.1    Cooper, S.T.2    Nowak, K.3
  • 17
    • 0030220198 scopus 로고    scopus 로고
    • Deficiency of a skeletal muscle isoform of alphaactinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy
    • North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alphaactinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscul Disord 1996;6:229-235.
    • (1996) Neuromuscul Disord , vol.6 , pp. 229-235
    • North, K.N.1    Beggs, A.H.2
  • 18
    • 0020076175 scopus 로고
    • Fast to slow change of myosin of nemaline myopathy: Electrophoretic and immunologic evidence
    • Volpe P, Damiani E, Margreth A, et al. Fast to slow change of myosin of nemaline myopathy: electrophoretic and immunologic evidence. Neurology 1982;32:37-41.
    • (1982) Neurology , vol.32 , pp. 37-41
    • Volpe, P.1    Damiani, E.2    Margreth, A.3
  • 19
    • 0035864823 scopus 로고    scopus 로고
    • A mutation in alphatropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
    • Corbett MA, Robinson CS, Dunglison GF, et al. A mutation in alphatropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet 2001;10:317-328.
    • (2001) Hum Mol Genet , vol.10 , pp. 317-328
    • Corbett, M.A.1    Robinson, C.S.2    Dunglison, G.F.3
  • 20
    • 0022973813 scopus 로고
    • Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion
    • Miike T, Ohtani Y, Tamari H, et al. Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion. Brain Dev 1986;8:526-532.
    • (1986) Brain Dev , vol.8 , pp. 526-532
    • Miike, T.1    Ohtani, Y.2    Tamari, H.3
  • 21
    • 0000622641 scopus 로고
    • Congenital nonprogressive myopathy. Central core and nemaline myopathy in one family
    • Afifi AK, Smith JW, Zellweger H. Congenital nonprogressive myopathy. Central core and nemaline myopathy in one family. Neurology 1965;15:371-381.
    • (1965) Neurology , vol.15 , pp. 371-381
    • Afifi, A.K.1    Smith, J.W.2    Zellweger, H.3
  • 22
    • 0015040077 scopus 로고
    • A new concept of childhood nemaline myopathy
    • Karpati G, Carpenter S, Andermann F. A new concept of childhood nemaline myopathy. Arch Neurol 1971;24:291-304.
    • (1971) Arch Neurol , vol.24 , pp. 291-304
    • Karpati, G.1    Carpenter, S.2    Andermann, F.3
  • 23
    • 0017886883 scopus 로고
    • Common origin of rods, cores, miniature cores, and focal loss of cross-striations
    • Bethlem J, Arts WF, Dingemans KP. Common origin of rods, cores, miniature cores, and focal loss of cross-striations. Arch Neurol 1978;35;555-566.
    • (1978) Arch Neurol , vol.35 , pp. 555-566
    • Bethlem, J.1    Arts, W.F.2    Dingemans, K.P.3
  • 24
    • 0022650193 scopus 로고
    • Intramuscular hematopoiesis in hypotonic infants with type 1 fiber dysmaturation
    • Bove KE, Iannaccone ST, Vogler C. Intramuscular hematopoiesis in hypotonic infants with type 1 fiber dysmaturation. Arch Pathol Lab Med 1986;110:207-211.
    • (1986) Arch Pathol Lab Med , vol.110 , pp. 207-211
    • Bove, K.E.1    Iannaccone, S.T.2    Vogler, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.