메뉴 건너뛰기




Volumn 8, Issue 3-4, 1998, Pages 162-168

Congenital myopathies with inclusion bodies: A brief review

Author keywords

Congenital myopathies; Cytoplasmic bodies; Inclusions; Spheroid bodies; Ultrastructure

Indexed keywords

DESMIN; INTERMEDIATE FILAMENT PROTEIN;

EID: 0032077088     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00022-4     Document Type: Conference Paper
Times cited : (21)

References (60)
  • 1
    • 0020693550 scopus 로고
    • Non-progressive congenital neuromuscular disease with uniform type I fiber
    • Oh S.J., Danon M.J. Non-progressive congenital neuromuscular disease with uniform type I fiber. Arch Neurol. 40:1983;147-150.
    • (1983) Arch Neurol , vol.40 , pp. 147-150
    • Oh, S.J.1    Danon, M.J.2
  • 2
    • 0029030389 scopus 로고
    • A new familial congenital myopathy in children with desmin and dystrophin reacting plaques
    • Fidzianska A., Ryniewicz B., Barcikowska M., Goebel H.H. A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. J Neurol Sci. 131:1995;88-95.
    • (1995) J Neurol Sci , vol.131 , pp. 88-95
    • Fidzianska, A.1    Ryniewicz, B.2    Barcikowska, M.3    Goebel, H.H.4
  • 5
    • 0027288603 scopus 로고
    • Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy
    • Ceuterick C., Martin J.-J., Martens C. Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy. Clin Neuropathol. 12:1993;79-83.
    • (1993) Clin Neuropathol , vol.12 , pp. 79-83
    • Ceuterick, C.1    Martin, J.-J.2    Martens, C.3
  • 8
    • 0030989057 scopus 로고    scopus 로고
    • Nemaline myopathy with intranuclear rods - intranuclear rod myopathy
    • Goebel H.H., Warlo I. Nemaline myopathy with intranuclear rods - intranuclear rod myopathy. Neuromusc Disord. 7:1997;13-19.
    • (1997) Neuromusc Disord , vol.7 , pp. 13-19
    • Goebel, H.H.1    Warlo, I.2
  • 10
    • 0010421601 scopus 로고
    • Neuropathological aspects of congenital myopathies
    • Goebel H.H. Neuropathological aspects of congenital myopathies. Prog Neuropathol. 6:1986;231-262.
    • (1986) Prog Neuropathol , vol.6 , pp. 231-262
    • Goebel, H.H.1
  • 11
    • 0000504097 scopus 로고
    • The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease
    • Engel W.K. The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease. Neurology. 12:1962;778-794.
    • (1962) Neurology , vol.12 , pp. 778-794
    • Engel, W.K.1
  • 12
    • 0014462503 scopus 로고
    • The cytoplasmic body: Another structural anomaly of the Z disk
    • MacDonald R.D., Engel A.G. The cytoplasmic body: another structural anomaly of the Z disk. Acta Neuropathol (Berl). 14:1969;99-107.
    • (1969) Acta Neuropathol (Berl) , vol.14 , pp. 99-107
    • MacDonald, R.D.1    Engel, A.G.2
  • 13
    • 0025041104 scopus 로고
    • Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: Immunocytochemical and fine structural studies, with a note to unusual 18- to 20-nm filaments
    • Schröder J.M., Sommer C., Schmidt B. Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note to unusual 18- to 20-nm filaments. Acta Neuropathol (Berl). 80:1990;406-414.
    • (1990) Acta Neuropathol (Berl) , vol.80 , pp. 406-414
    • Schröder, J.M.1    Sommer, C.2    Schmidt, B.3
  • 14
    • 0022633796 scopus 로고
    • Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus
    • Chou S.M., Mizuno Y. Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus. Muscle Nerve. 9:1986;455-464.
    • (1986) Muscle Nerve , vol.9 , pp. 455-464
    • Chou, S.M.1    Mizuno, Y.2
  • 15
    • 0024317201 scopus 로고
    • Myopathie familiale avec inclusions de type 'corps cytoplasmiques' (ou 'sphéroides') révélée par une insuffisance respiratoire
    • Chapon F., Viader F., Fardeau M.et al. Myopathie familiale avec inclusions de type 'corps cytoplasmiques' (ou 'sphéroides') révélée par une insuffisance respiratoire. Rev Neurol (Paris). 145:1989;460-465.
    • (1989) Rev Neurol (Paris) , vol.145 , pp. 460-465
    • Chapon, F.1    Viader, F.2    Fardeau, M.3
  • 16
    • 0021019593 scopus 로고
    • The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein
    • Osborn M., Goebel H.H. The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein. Acta Neuropathol (Berl). 62:1983;149-152.
    • (1983) Acta Neuropathol (Berl) , vol.62 , pp. 149-152
    • Osborn, M.1    Goebel, H.H.2
  • 17
  • 18
    • 0025882124 scopus 로고
    • Spheroid-cytoplasmic complexes in a congenital myopathy
    • Halbig L., Goebel H.H., Hopf H.C., Moll R. Spheroid-cytoplasmic complexes in a congenital myopathy. Rev Neurol (Paris). 147:1991;300-307.
    • (1991) Rev Neurol (Paris) , vol.147 , pp. 300-307
    • Halbig, L.1    Goebel, H.H.2    Hopf, H.C.3    Moll, R.4
  • 19
    • 0030247740 scopus 로고    scopus 로고
    • Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle
    • Prelle A., Rigoletto C., Moggio M.et al. Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle. J Neurol Sci. 140:1996;132-136.
    • (1996) J Neurol Sci , vol.140 , pp. 132-136
    • Prelle, A.1    Rigoletto, C.2    Moggio, M.3
  • 20
    • 0001478040 scopus 로고
    • Autosomal dominant myofibrillar inclusion body myopathy: Clinical, histologic, histochemical, and ultrastructural characteristics (abstract)
    • Clark J.R., D'Agostino A.N., Wilson J., Brooks R.R., Cole G.C. Autosomal dominant myofibrillar inclusion body myopathy: clinical, histologic, histochemical, and ultrastructural characteristics (abstract). Neurology. 28:1978;399.
    • (1978) Neurology , vol.28 , pp. 399
    • Clark, J.R.1    D'Agostino, A.N.2    Wilson, J.3    Brooks, R.R.4    Cole, G.C.5
  • 22
    • 0018937410 scopus 로고
    • A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
    • Edström L., Thornell L.-E., Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci. 47:1980;171-190.
    • (1980) J Neurol Sci , vol.47 , pp. 171-190
    • Edström, L.1    Thornell, L.-E.2    Eriksson, A.3
  • 24
    • 0018068469 scopus 로고
    • Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique
    • Fardeau M., Godet-Guillain J., Tomé F.M.S.et al. Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris). 134:1978;411-425.
    • (1978) Rev Neurol (Paris) , vol.134 , pp. 411-425
    • Fardeau, M.1    Godet-Guillain, J.2    Tomé, F.M.S.3
  • 25
    • 0023918541 scopus 로고
    • Storage of phosphorylated desmin in a familial myopathy
    • Rappaport L., Contard F., Samuel J.L.et al. Storage of phosphorylated desmin in a familial myopathy. FEBS Lett. 231:1988;421-425.
    • (1988) FEBS Lett , vol.231 , pp. 421-425
    • Rappaport, L.1    Contard, F.2    Samuel, J.L.3
  • 26
    • 0027292955 scopus 로고
    • Familial desminopathy: Myopathy with accumulation of desmin-type intermediate filaments
    • Vajsar J., Becker L.E., Freedom R.M., Murphy E.G. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. J Neurol Neurosurg Psychiatry. 56:1993;644-648.
    • (1993) J Neurol Neurosurg Psychiatry , vol.56 , pp. 644-648
    • Vajsar, J.1    Becker, L.E.2    Freedom, R.M.3    Murphy, E.G.4
  • 27
    • 0028300671 scopus 로고
    • Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin
    • Helliwell T.R., Green A.R.T., Green A., Edwards R.H.T. Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin. J Neurol Sci. 124:1994;174-187.
    • (1994) J Neurol Sci , vol.124 , pp. 174-187
    • Helliwell, T.R.1    Green, A.R.T.2    Green, A.3    Edwards, R.H.T.4
  • 28
    • 0028120746 scopus 로고
    • Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
    • Horowitz S.H., Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve. 17:1994;151-160.
    • (1994) Muscle Nerve , vol.17 , pp. 151-160
    • Horowitz, S.H.1    Schmalbruch, H.2
  • 29
    • 0028016523 scopus 로고
    • Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy
    • Goebel H.H., Voit T., Warlo I., Jacobs K., Johannsen U., Müller C.R. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. Rev Neurol (Paris). 150:1994;452-459.
    • (1994) Rev Neurol (Paris) , vol.150 , pp. 452-459
    • Goebel, H.H.1    Voit, T.2    Warlo, I.3    Jacobs, K.4    Johannsen, U.5    Müller, C.R.6
  • 30
    • 0018840079 scopus 로고
    • Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells
    • Porte A., Stoeckel M.-E., Sacrez A., Batzenschlager A. Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. Virchows Arch A. 386:1980;43-58.
    • (1980) Virchows Arch a , vol.386 , pp. 43-58
    • Porte, A.1    Stoeckel, M.-E.2    Sacrez, A.3    Batzenschlager, A.4
  • 31
    • 0019501737 scopus 로고
    • An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments
    • Stoeckel M.E., Osborn M., Porte A., Sacrez A., Batzenschlager A., Weber K. An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. Virchows Arch A. 393:1981;53-60.
    • (1981) Virchows Arch a , vol.393 , pp. 53-60
    • Stoeckel, M.E.1    Osborn, M.2    Porte, A.3    Sacrez, A.4    Batzenschlager, A.5    Weber, K.6
  • 32
    • 0010462826 scopus 로고    scopus 로고
    • Hereditary desminopathy with cardiomyopathy and distal muscular weakness (abstract)
    • 1310(S5.4.03)
    • Janzer RC, Lobrinus JA, Kuntzer T, Matthieu J-M. Hereditary desminopathy with cardiomyopathy and distal muscular weakness (abstract). Brain Pathol 1997;7:1310(S5.4.03).
    • (1997) Brain Pathol , vol.7
    • Janzer, R.C.1    Lobrinus, J.A.2    Kuntzer, T.3    Matthieu, J.-M.4
  • 34
    • 0030272135 scopus 로고    scopus 로고
    • Familial desmin-related myopathies and cardiomyopathies - from myopathology to molecular and clinical genetics
    • Goebel H.H., Fardeau M. Familial desmin-related myopathies and cardiomyopathies - from myopathology to molecular and clinical genetics. Neuromusc Disord. 6:1996;383-388.
    • (1996) Neuromusc Disord , vol.6 , pp. 383-388
    • Goebel, H.H.1    Fardeau, M.2
  • 35
    • 0000649877 scopus 로고
    • Desmin myopathy. Report of two cases with different clinical phenotype and review of literature (abstract)
    • Navarro C., Teijeira S., Fernández J.M., Gámez J., Cervera C. Desmin myopathy. Report of two cases with different clinical phenotype and review of literature (abstract). Clin Neuropathol. 13:1994;105.
    • (1994) Clin Neuropathol , vol.13 , pp. 105
    • Navarro, C.1    Teijeira, S.2    Fernández, J.M.3    Gámez, J.4    Cervera, C.5
  • 37
    • 0025753920 scopus 로고
    • Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage
    • Telerman-Toppet N., Bauherz G., Noël S. Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage. Clin Neuropathol. 10:1991;61-64.
    • (1991) Clin Neuropathol , vol.10 , pp. 61-64
    • Telerman-Toppet, N.1    Bauherz, G.2    Noël, S.3
  • 40
    • 0026490347 scopus 로고
    • Congenital myopathy associated with abnormal accumulation of desmin and dystrophin
    • Prelle A., Moggio M., Comi G.P.et al. Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. Neuromusc Disord. 2:1992;169-175.
    • (1992) Neuromusc Disord , vol.2 , pp. 169-175
    • Prelle, A.1    Moggio, M.2    Comi, G.P.3
  • 41
    • 0027743329 scopus 로고
    • Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies
    • Caron A., Chapon F., Berthelin C., Viader F., Lechevalier B. Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. Neuromusc Disord. 3:1993;541-546.
    • (1993) Neuromusc Disord , vol.3 , pp. 541-546
    • Caron, A.1    Chapon, F.2    Berthelin, C.3    Viader, F.4    Lechevalier, B.5
  • 42
    • 0029814021 scopus 로고    scopus 로고
    • Human desmin gene: CDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
    • Vicart P., Dupret J.-M., Hazan J.et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet. 98:1996;422-429.
    • (1996) Hum Genet , vol.98 , pp. 422-429
    • Vicart, P.1    Dupret, J.-M.2    Hazan, J.3
  • 43
    • 0029925575 scopus 로고    scopus 로고
    • Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
    • De Bleecker J.L., Engel A.G., Ertl B.B. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol. 55:1996;563-577.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 563-577
    • De Bleecker, J.L.1    Engel, A.G.2    Ertl, B.B.3
  • 44
    • 0029875349 scopus 로고    scopus 로고
    • Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
    • Nakano S., Engel A.G., Waclawik A.J., Emslie-Smith A.M., Busis N.A. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol. 55:1996;549-562.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 549-562
    • Nakano, S.1    Engel, A.G.2    Waclawik, A.J.3    Emslie-Smith, A.M.4    Busis, N.A.5
  • 45
    • 0020678862 scopus 로고
    • A dominantly inherited myopathy with excessive tubular aggregates
    • Rohkamm R., Boxler K., Ricker K., Jerusalem F. A dominantly inherited myopathy with excessive tubular aggregates. Neurology. 33:1983;331-336.
    • (1983) Neurology , vol.33 , pp. 331-336
    • Rohkamm, R.1    Boxler, K.2    Ricker, K.3    Jerusalem, F.4
  • 46
    • 0016661085 scopus 로고
    • Zebra body myopathy
    • Lake B.D., Wilson J. Zebra body myopathy. J Neurol Sci. 24:1975;437-446.
    • (1975) J Neurol Sci , vol.24 , pp. 437-446
    • Lake, B.D.1    Wilson, J.2
  • 47
    • 0023432281 scopus 로고
    • Zebra body myopathy: A second case of ultrastructurally distinct congenital myopathy
    • Reyes M.G., Goldbarg H., Fresco K., Bouffard A. Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. J Child Neurol. 2:1987;307-310.
    • (1987) J Child Neurol , vol.2 , pp. 307-310
    • Reyes, M.G.1    Goldbarg, H.2    Fresco, K.3    Bouffard, A.4
  • 48
    • 0015382409 scopus 로고
    • Reducing body myopathy
    • Brooke M.H., Neville H.E. Reducing body myopathy. Neurology. 22:1972;829-840.
    • (1972) Neurology , vol.22 , pp. 829-840
    • Brooke, M.H.1    Neville, H.E.2
  • 49
    • 0016417286 scopus 로고
    • Congenital myopathy with 'reducing bodies' in muscle fibres
    • Tomé F.M., Fardeau M. Congenital myopathy with 'reducing bodies' in muscle fibres. Acta Neuropathol (Berl). 31:1975;207-217.
    • (1975) Acta Neuropathol (Berl) , vol.31 , pp. 207-217
    • Tomé, F.M.1    Fardeau, M.2
  • 50
    • 0020300747 scopus 로고
    • Granularkörpermyopathie (sog. reducing body myopathy)
    • Hübner G., Pongratz D. Granularkörpermyopathie (sog. reducing body myopathy). Pathologe. 3:1982;111-113.
    • (1982) Pathologe , vol.3 , pp. 111-113
    • Hübner, G.1    Pongratz, D.2
  • 51
    • 0001054696 scopus 로고
    • Congenital myopathies
    • In: Rowland LP, DiMauro S, editors. Amsterdam: Elsevier
    • Goebel HH, Lenard HG. Congenital myopathies. In: Rowland LP, DiMauro S, editors. Handbook of clinical neurology. Amsterdam: Elsevier, 1992:331-367.
    • (1992) Handbook of Clinical Neurology , pp. 331-367
    • Goebel, H.H.1    Lenard, H.G.2
  • 52
    • 0028008518 scopus 로고
    • Reducing body myopathy and desmin storage in skeletal muscle: Morphological and biochemical findings
    • Bertini E., Salviati G., Apollo F.et al. Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. Acta Neuropathol (Berl). 87:1994;106-112.
    • (1994) Acta Neuropathol (Berl) , vol.87 , pp. 106-112
    • Bertini, E.1    Salviati, G.2    Apollo, F.3
  • 53
    • 0015356059 scopus 로고
    • Fingerprint body myopathy. A newly recognized muscle disease
    • Engel A.G., Angelini C., Gomez M.R. Fingerprint body myopathy. A newly recognized muscle disease. Mayo Clin Proc. 47:1972;377-388.
    • (1972) Mayo Clin Proc , vol.47 , pp. 377-388
    • Engel, A.G.1    Angelini, C.2    Gomez, M.R.3
  • 57
    • 0021026101 scopus 로고
    • Cylindrical spirals in skeletal muscle: A further observation with clinical, morphological, and biochemical analysis
    • Gibbels E., Henke U., Schädlich H.-J., Haupt W.F., Fiehn W. Cylindrical spirals in skeletal muscle: a further observation with clinical, morphological, and biochemical analysis. Muscle Nerve. 6:1983;646-655.
    • (1983) Muscle Nerve , vol.6 , pp. 646-655
    • Gibbels, E.1    Henke, U.2    Schädlich, H.-J.3    Haupt, W.F.4    Fiehn, W.5
  • 58
    • 0018927688 scopus 로고
    • Cylindrical spirals in a familial neuromuscular disorder
    • Bove K.E., Iannaccone S.T., Hilton P.K., Samaha F. Cylindrical spirals in a familial neuromuscular disorder. Ann Neurol. 7:1980;550-556.
    • (1980) Ann Neurol , vol.7 , pp. 550-556
    • Bove, K.E.1    Iannaccone, S.T.2    Hilton, P.K.3    Samaha, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.