메뉴 건너뛰기




Volumn 77, Issue 22, 2011, Pages 1951-1959

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

FHL1 PROTEIN; LIM PROTEIN; LIM2 PROTEIN; MENADIONE; NITROBLUE TETRAZOLIUM; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 82955228817     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31823a0ebe     Document Type: Article
Times cited : (52)

References (39)
  • 1
    • 0033574044 scopus 로고    scopus 로고
    • The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle
    • DOI 10.1006/bbrc.1999.0179
    • Morgan MJ, Madgwick AJ. The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle. Biochem Biophys Res Commun 1999;255:245-250. (Pubitemid 29292244)
    • (1999) Biochemical and Biophysical Research Communications , vol.255 , Issue.2 , pp. 245-250
    • Morgan, M.J.1    Madgwick, A.J.A.2
  • 2
    • 0034234785 scopus 로고    scopus 로고
    • Expression patterns of FHL/SLIM family members suggest important functional roles in skeletal muscle and cardiovascular system
    • DOI 10.1016/S0925-4773(00)00341-5, PII S0925477300003415
    • Chu PH, Ruiz-Lozano P, Zhou Q, Cai C, Chen J. Expression patterns of FHL/SLIM family members suggest important functional roles in skeletal muscle and cardiovascular system. Mech Dev 2000;95:259-265. (Pubitemid 30440818)
    • (2000) Mechanisms of Development , vol.95 , Issue.1-2 , pp. 259-265
    • Chu, P.-H.1    Ruiz-Lozano, P.2    Zhou, Q.3    Cai, C.4    Chen, J.5
  • 4
    • 79952736320 scopus 로고    scopus 로고
    • Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features
    • Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord 2011;21:237-251.
    • (2011) Neuromuscul Disord , vol.21 , pp. 237-251
    • Cowling, B.S.1    Cottle, D.L.2    Wilding, B.R.3    D'Arcy, C.E.4    Mitchell, C.A.5    McGrath, M.J.6
  • 7
    • 60149106395 scopus 로고    scopus 로고
    • Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
    • Schessl J, Taratuto AL, Sewry C, et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009;132:452-464.
    • (2009) Brain , vol.132 , pp. 452-464
    • Schessl, J.1    Taratuto, A.L.2    Sewry, C.3
  • 9
    • 56649092812 scopus 로고    scopus 로고
    • Rigid spine syndrome caused by a novel mutation in four-and-A-half LIM domain 1 gene (FHL1)
    • Shalaby S, Hayashi YK, Goto K, et al. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord 2008;18: 959-961.
    • (2008) Neuromuscul Disord , vol.18 , pp. 959-961
    • Shalaby, S.1    Hayashi, Y.K.2    Goto, K.3
  • 10
    • 69749088309 scopus 로고    scopus 로고
    • Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
    • Gueneau L, Bertrand AT, Jais JP, et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2009;85:338-353.
    • (2009) Am J Hum Genet , vol.85 , pp. 338-353
    • Gueneau, L.1    Bertrand, A.T.2    Jais, J.P.3
  • 11
    • 77649302442 scopus 로고    scopus 로고
    • Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
    • Knoblauch H, Geier C, Adams S, et al. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann Neurol 2010;67:136-140.
    • (2010) Ann Neurol , vol.67 , pp. 136-140
    • Knoblauch, H.1    Geier, C.2    Adams, S.3
  • 12
    • 0029925575 scopus 로고    scopus 로고
    • Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
    • De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996;55:563-577. (Pubitemid 26140839)
    • (1996) Journal of Neuropathology and Experimental Neurology , vol.55 , Issue.5 , pp. 563-577
    • De Bleecker, J.L.1    Engel, A.G.2    Ertl, B.B.3
  • 14
    • 0742305818 scopus 로고    scopus 로고
    • Myofibrillar myopathy: Clinical, morphological and genetic studies in 63 patients
    • DOI 10.1093/brain/awh052
    • Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: Clinical, morphological and genetic studies in 63 patients. Brain 2004;127:439-451. (Pubitemid 38160328)
    • (2004) Brain , vol.127 , Issue.2 , pp. 439-451
    • Selcen, D.1    Ohno, K.2    Engel, A.G.3
  • 15
    • 69449087584 scopus 로고    scopus 로고
    • Consequences of mutations within the C terminus of the FHL1 gene
    • Schoser B, Goebel HH, Janisch I, et al. Consequences of mutations within the C terminus of the FHL1 gene. Neurology 2009;73:543-551.
    • (2009) Neurology , vol.73 , pp. 543-551
    • Schoser, B.1    Goebel, H.H.2    Janisch, I.3
  • 16
    • 13144267020 scopus 로고    scopus 로고
    • Engel AG, Franzini- Armstrong C, eds. Myology, 3rd ed. New York: McGraw- Hill
    • Engel AG. The muscle biopsy. In: Engel AG, Franzini- Armstrong C, eds. Myology, 3rd ed. New York: McGraw- Hill; 2004:681-690.
    • (2004) The Muscle Biopsy , pp. 681-690
    • Engel, A.G.1
  • 17
    • 72849184174 scopus 로고
    • Effects of coenzyme Q10 and menadione on succinic dehydrogenase activity as measured by tetrazolium salt reduction
    • Wattenberg LW, Leong JL. Effects of coenzyme Q10 and menadione on succinic dehydrogenase activity as measured by tetrazolium salt reduction. J Histochem Cytochem 1960;8:296-303.
    • (1960) J Histochem Cytochem , vol.8 , pp. 296-303
    • Wattenberg, L.W.1    Leong, J.L.2
  • 18
  • 19
    • 0024043341 scopus 로고
    • Mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans
    • Way JC, Chalfie M. mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans. Cell 1988;54:5-16.
    • (1988) Cell , vol.54 , pp. 5-16
    • Way J.C. Chalfie, M.1
  • 20
    • 0025328511 scopus 로고
    • Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11
    • Freyd G, Kim SK, Horvitz HR. Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11. Nature 1990;344:876-879.
    • (1990) Nature , vol.344 , pp. 876-879
    • Freyd, G.1    Kim, S.K.2    Horvitz, H.R.3
  • 21
    • 0025280050 scopus 로고
    • Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo- and a Cys-His domain
    • Karlsson O, Thor S, Norberg T, Ohlsson H, Edlund T. Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo- and a Cys-His domain. Nature 1990;344:879-882.
    • (1990) Nature , vol.344 , pp. 879-882
    • Karlsson, O.1    Thor, S.2    Norberg, T.3    Ohlsson, H.4    Edlund, T.5
  • 23
    • 77956879955 scopus 로고    scopus 로고
    • A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations
    • Chen DH, Raskind WH, Parson WW, et al. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations. J Neurol Sci 2010;296:22-29.
    • (2010) J Neurol Sci , vol.296 , pp. 22-29
    • Chen, D.H.1    Raskind, W.H.2    Parson, W.W.3
  • 25
    • 77953815554 scopus 로고    scopus 로고
    • Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: Identification of a second LIM domain mutation in FHL1
    • Schessl J, Columbus A, Hu Y, et al. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: Identification of a second LIM domain mutation in FHL1. Neuropediatrics 2010;41:43-46.
    • (2010) Neuropediatrics , vol.41 , pp. 43-46
    • Schessl, J.1    Columbus, A.2    Hu, Y.3
  • 26
    • 48749104264 scopus 로고    scopus 로고
    • Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
    • Claeys KG, Fardeau M, Schroder R, et al. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Neuromuscul Disord 2008;18:656-666.
    • (2008) Neuromuscul Disord , vol.18 , pp. 656-666
    • Claeys, K.G.1    Fardeau, M.2    Schroder, R.3
  • 27
    • 77956392191 scopus 로고    scopus 로고
    • Myofibrillar myopathies
    • Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2010;23:477-481.
    • (2010) Curr Opin Neurol , vol.23 , pp. 477-481
    • Selcen, D..1
  • 28
    • 0030813827 scopus 로고    scopus 로고
    • Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy
    • Tome FM, Chateau D, Helbling-Leclerc A, Fardeau M. Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromuscul Disord 1997; 7(suppl 1):S63-S69.
    • (1997) Neuromuscul Disord , vol.7 , Issue.SUPPL. 1
    • Tome, F.M.1    Chateau, D.2    Helbling-Leclerc, A.3    Fardeau, M.4
  • 29
    • 0034703413 scopus 로고    scopus 로고
    • Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
    • Calado A, Tome FM, Brais B, et al. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 2000;9:2321-2328.
    • (2000) Hum Mol Genet , vol.9 , pp. 2321-2328
    • Calado, A.1    Tome, F.M.2    Brais, B.3
  • 30
    • 0014384937 scopus 로고
    • Myxovirus-like structures and accompanying nuclear changes in chronic polymyositis
    • Chou SM. Myxovirus-like structures and accompanying nuclear changes in chronic polymyositis. Arch Pathol 1968;86:649-658.
    • (1968) Arch Pathol , vol.86 , pp. 649-658
    • Chou, S.M.1
  • 31
    • 0015129206 scopus 로고
    • Inclusion body myositis
    • Yunis EJ, Samaha FJ. Inclusion body myositis. Lab Invest 1971;25:240-248.
    • (1971) Lab Invest , vol.25 , pp. 240-248
    • Yunis, E.J.1    Samaha, F.J.2
  • 32
    • 0015056106 scopus 로고
    • Chronic polymyositis and myxovirus-like inclusions: Electron microscopic and viral studies
    • Sato T, Walker DL, Peters HA, Resse HH, Chou SM. Chronic polymyositis and myxovirus-like inclusions: Electron microscopic and viral studies. Arch Neurol 1971;24: 409-418.
    • (1971) Arch Neurol , vol.24 , pp. 409-418
    • Sato, T.1    Walker, D.L.2    Peters, H.A.3    Resse, H.H.4    Chou, S.M.5
  • 33
    • 0024340503 scopus 로고
    • Inclusion body myositis. Observations in 40 patients
    • Lotz BP, Engel AG, Nishino H, Stevens JC, Litchy WJ. Inclusion body myositis: Observations in 40 patients. Brain 1989;112:727-747. (Pubitemid 19151167)
    • (1989) Brain , vol.112 , Issue.3 , pp. 727-747
    • Lotz, B.P.1    Engel, A.G.2    Nishino, H.3    Stevens, J.C.4    Litchy, W.J.5
  • 34
    • 1942473823 scopus 로고    scopus 로고
    • Mutations in myotilin cause myofibrillar myopathy
    • Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62:1363-1371. (Pubitemid 38526050)
    • (2004) Neurology , vol.62 , Issue.8 , pp. 1363-1371
    • Selcen, D.1    Engel, A.G.2
  • 35
    • 34250559374 scopus 로고
    • Dystrophia muscularis progressiva: Klinische und pathologisch-anatomische studien
    • Erb W. Dystrophia muscularis progressiva: Klinische und pathologisch-anatomische studien. Dtsch Z Nervenheilkd 1891;1:173-261.
    • (1891) Dtsch Z Nervenheilkd , vol.1 , pp. 173-261
    • Erb, W.1
  • 36
    • 0023856168 scopus 로고
    • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
    • Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988;38:5-9. (Pubitemid 18028081)
    • (1988) Neurology , vol.38 , Issue.1 , pp. 5-9
    • Gilchrist, J.M.1    Pericak-Vance, M.2    Silverman, L.3    Roses, A.D.4
  • 37
    • 0034284682 scopus 로고    scopus 로고
    • Myotilin is mutated in limb girdle muscular dystrophy 1A
    • Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-2147.
    • (2000) Hum Mol Genet , vol.9 , pp. 2141-2147
    • Hauser, M.A.1    Horrigan, S.K.2    Salmikangas, P.3
  • 39
    • 79951952952 scopus 로고    scopus 로고
    • Infantile muscular dystrophy in Canadian aboriginals is an αBcrystallinopathy
    • Del Bigio MR, Chudley AE, Sarnat HB, et al. Infantile muscular dystrophy in Canadian aboriginals is an αBcrystallinopathy. Ann Neurol 2011;69:866-871.
    • (2011) Ann Neurol , vol.69 , pp. 866-871
    • Del Bigio, M.R.1    Chudley, A.E.2    Sarnat, H.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.