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Volumn 19, Issue 1, 1999, Pages 35-43

Facioscapulohumeral dystrophy

Author keywords

Chromosome 4q35; Facioscapulohumeral; Muscular dystrophy; Position effect variegation

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; CREATINE KINASE; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISONE; SALBUTAMOL;

EID: 0032984212     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040824     Document Type: Review
Times cited : (51)

References (64)
  • 1
    • 0031915927 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy. A distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium
    • Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. Facioscapulohumeral dystrophy. A distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol 1998;43:279-282
    • (1998) Ann Neurol , vol.43 , pp. 279-282
    • Tawil, R.1    Figlewicz, D.A.2    Griggs, R.C.3    Weiffenbach, B.4
  • 2
    • 0004164234 scopus 로고
    • Thesis. Leiden, The Netherlands: University of Leiden
    • Padberg G. Facioscapulohumeral disease. Thesis. Leiden, The Netherlands: University of Leiden, 1982
    • (1982) Facioscapulohumeral Disease
    • Padberg, G.1
  • 3
    • 0025160101 scopus 로고
    • Location of the facioscapulohumeral muscular dystrophy gene on chromosome 4
    • Wijmenga C, Frants RR, Brouwer OF. et al. Location of the facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-653
    • (1990) Lancet , vol.336 , pp. 651-653
    • Wijmenga, C.1    Frants, R.R.2    Brouwer, O.F.3
  • 4
    • 0002639380 scopus 로고
    • Recherches sur la paralysis musculaire pseudohypertophique, ou paralysis myosclerosique
    • Duchenne GB. Recherches sur la paralysis musculaire pseudohypertophique, ou paralysis myosclerosique. Arch Gen Med 1868;11:5-25,179-209,305-321,421-443,552-588
    • (1868) Arch Gen Med , vol.11 , pp. 5-25
    • Duchenne, G.B.1
  • 5
    • 0002845499 scopus 로고
    • De la myopathie atrophique progressive (myopathie héréditaire debutant dans l'enfance, par la face sans alteration du système nerveux)
    • Landouzy L, Dejerine J. De la myopathie atrophique progressive (myopathie héréditaire debutant dans l'enfance, par la face sans alteration du système nerveux). CR Seances Acad Sci 1884;98:53
    • (1884) CR Seances Acad Sci , vol.98 , pp. 53
    • Landouzy, L.1    Dejerine, J.2
  • 6
    • 0001283510 scopus 로고
    • Facioscapulohumeral disease and the scapuloperoneal syndrome
    • Franzini-Armstrong C, Engel AG, eds. New York: McGraw-Hill
    • Munsat TL. Facioscapulohumeral disease and the scapuloperoneal syndrome. In: Franzini-Armstrong C, Engel AG, eds. Myology; 2nd edition. New York: McGraw-Hill, 1994:1220-1232
    • (1994) Myology; 2nd Edition , pp. 1220-1232
    • Munsat, T.L.1
  • 7
    • 84965184259 scopus 로고
    • Studies in disorders of muscles. II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy
    • Tyler FH, Stephens FE. Studies in disorders of muscles. II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy. Ann Intern Med 1950;32:640-660
    • (1950) Ann Intern Med , vol.32 , pp. 640-660
    • Tyler, F.H.1    Stephens, F.E.2
  • 8
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954;77:169-231
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 9
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
    • Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genet 1992;2:26-30
    • (1992) Nature Genet , vol.2 , pp. 26-30
    • Wijmenga, C.1    Hewitt, J.E.2    Sandkuijl, L.A.3
  • 10
    • 0003006469 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heinemann.
    • Tawil R, Griggs RC. Facioscapulohumeral muscular dystrophy. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann. 1997:931-938
    • (1997) The Molecular and Genetic Basis of Neurological Disease , pp. 931-938
    • Tawil, R.1    Griggs, R.C.2
  • 11
    • 0028927652 scopus 로고
    • Early onset facioscapulohumeral muscular dystrophy
    • Brouwer OF, Padberg GW, et al. Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;2:S67-S72
    • (1995) Muscle Nerve , vol.2
    • Brouwer, O.F.1    Padberg, G.W.2
  • 13
    • 0031470239 scopus 로고    scopus 로고
    • Early-onset facioscapulohumeral muscular dystrophy: Two case reports
    • Okinaga A, Matsuoka T, Umeda J, et al. Early-onset facioscapulohumeral muscular dystrophy: Two case reports. Brain Dev 1997;19:563-567
    • (1997) Brain Dev , vol.19 , pp. 563-567
    • Okinaga, A.1    Matsuoka, T.2    Umeda, J.3
  • 14
    • 0014972556 scopus 로고
    • Mobius syndrome and facioscapulohumeral muscular dystrophy
    • Hansen PA, Rowland LP. Mobius syndrome and facioscapulohumeral muscular dystrophy. Arch Neurol 1971;24:31-39
    • (1971) Arch Neurol , vol.24 , pp. 31-39
    • Hansen, P.A.1    Rowland, L.P.2
  • 15
    • 0024308793 scopus 로고
    • Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimizing ascertainment bias
    • Lunt PW, Compston DA, Harper PS. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimizing ascertainment bias. J Med Genet 1989;26:755-760
    • (1989) J Med Genet , vol.26 , pp. 755-760
    • Lunt, P.W.1    Compston, D.A.2    Harper, P.S.3
  • 16
    • 0025028786 scopus 로고
    • Beevor's sign in facioscapulohumeral muscular dystrophy
    • Awerbuch GI, Nigro MA. Beevor's sign in facioscapulohumeral muscular dystrophy. Arch Neurol 1990;47:1208-1209
    • (1990) Arch Neurol , vol.47 , pp. 1208-1209
    • Awerbuch, G.I.1    Nigro, M.A.2
  • 17
    • 0031034093 scopus 로고    scopus 로고
    • A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): Implications for therapeutic trials. The FSH-DY Group
    • Anonymous. A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): Implications for therapeutic trials. The FSH-DY Group. Neurology 1997;48:38-46
    • (1997) Neurology , vol.48 , pp. 38-46
  • 18
    • 0028280848 scopus 로고
    • Facioscapulohumeral muscular dystrophy (FSHD): Design of natural history study and results of baseline testing
    • Tawil R, McDermott MP, Mendell JR, et al., and the FSH-DY Group. Facioscapulohumeral muscular dystrophy (FSHD): Design of natural history study and results of baseline testing. Neurology 1994;44:442-446
    • (1994) Neurology , vol.44 , pp. 442-446
    • Tawil, R.1    McDermott, M.P.2    Mendell, J.R.3
  • 19
    • 0026539780 scopus 로고
    • The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy
    • Brouwer OF, Padberg GW, Van der Ploeg RJO, et al. The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy. Brain 1992; 115:1587-1598
    • (1992) Brain , vol.115 , pp. 1587-1598
    • Brouwer, O.F.1    Padberg, G.W.2    Van Der Ploeg, R.J.O.3
  • 20
    • 0029038951 scopus 로고
    • Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
    • Lunt PW, Jardine PE, Koch MC, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-958
    • (1995) Hum Mol Genet , vol.4 , pp. 951-958
    • Lunt, P.W.1    Jardine, P.E.2    Koch, M.C.3
  • 21
    • 0023202070 scopus 로고
    • Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy
    • Fitzsimons RB, Gurwir EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. Brain 1987; 110:631-684
    • (1987) Brain , vol.110 , pp. 631-684
    • Fitzsimons, R.B.1    Gurwir, E.B.2    Bird, A.C.3
  • 22
    • 0025147116 scopus 로고
    • Long-term follow-up of facioscapulohumeral muscular dystrophy and Coats' disease
    • Desai UR, Sabates FN. Long-term follow-up of facioscapulohumeral muscular dystrophy and Coats' disease. Am J Ophthalmol 1990;110:568-559
    • (1990) Am J Ophthalmol , vol.110 , pp. 568-1559
    • Desai, U.R.1    Sabates, F.N.2
  • 23
    • 0026320445 scopus 로고
    • Hearing loss in facioscapulohumeral muscular dystrophy
    • Brouwer OF, Padberg GW, Ruys CJM, et al. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991;31: 1878-1881
    • (1991) Neurology , vol.31 , pp. 1878-1881
    • Brouwer, O.F.1    Padberg, G.W.2    Ruys, C.J.M.3
  • 24
    • 0028930856 scopus 로고
    • On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
    • Padberg GW, Brouwer OF, de Keizer RJ, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;2:S73-S80
    • (1995) Muscle Nerve , vol.2
    • Padberg, G.W.1    Brouwer, O.F.2    De Keizer, R.J.3
  • 25
    • 0025034639 scopus 로고
    • Facioscapulohumeral muscular dystrophy: Evidence for selective genetic electrophysiologic cardiac involvement
    • Stevenson WG, Perloff JK, Weiss JN, Anderson TL. Facioscapulohumeral muscular dystrophy: Evidence for selective genetic electrophysiologic cardiac involvement. J Am Coll Cardiol 1990;15:292-299
    • (1990) J Am Coll Cardiol , vol.15 , pp. 292-299
    • Stevenson, W.G.1    Perloff, J.K.2    Weiss, J.N.3    Anderson, T.L.4
  • 26
    • 0026546173 scopus 로고
    • The heart in Becker muscular dystrophy, facioscapulohumeral muscular dystrophy and Bethlem myopathy
    • De Visser M, DeVoogt GW, La Riviere GV. The heart in Becker muscular dystrophy, facioscapulohumeral muscular dystrophy and Bethlem myopathy. Muscle Nerve 1992;15:591-596
    • (1992) Muscle Nerve , vol.15 , pp. 591-596
    • De Visser, M.1    Devoogt, G.W.2    La Riviere, G.V.3
  • 27
    • 0014396830 scopus 로고
    • Persistent atrial standstill in a patient affected with facioscapulohumeral dystrophy
    • Caponnetto S, Pastorini C, Tirelli G. Persistent atrial standstill in a patient affected with facioscapulohumeral dystrophy. Cardiologia 1968;53:341-350
    • (1968) Cardiologia , vol.53 , pp. 341-350
    • Caponnetto, S.1    Pastorini, C.2    Tirelli, G.3
  • 29
    • 0028957334 scopus 로고
    • Neurogenic FSH muscular atrophy
    • Furukawa T. Neurogenic FSH muscular atrophy. Muscle Nerve 1995;2:S96-S97
    • (1995) Muscle Nerve , vol.2
    • Furukawa, T.1
  • 30
    • 0022499964 scopus 로고
    • Facioscapulohumeral muscular dystrophy: The choice of a biopsy site
    • Bodensteiner JB, Shochet SS. Facioscapulohumeral muscular dystrophy: The choice of a biopsy site. Muscle Nerve 1986;9: 544-547
    • (1986) Muscle Nerve , vol.9 , pp. 544-547
    • Bodensteiner, J.B.1    Shochet, S.S.2
  • 31
    • 0028961960 scopus 로고
    • Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses
    • Arahata K, Ishihara T, Fukunaga H, et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses. Muscle Nerve 1995;2: S56-S66
    • (1995) Muscle Nerve , vol.2
    • Arahata, K.1    Ishihara, T.2    Fukunaga, H.3
  • 32
    • 0015323857 scopus 로고
    • Inflammatory myopathy with facioscapulohumeral distribution
    • Munsat TL, Piper D, Cancilla P, Mednick J. Inflammatory myopathy with facioscapulohumeral distribution. Neurology 1972;22: 335-347
    • (1972) Neurology , vol.22 , pp. 335-347
    • Munsat, T.L.1    Piper, D.2    Cancilla, P.3    Mednick, J.4
  • 34
    • 0029195881 scopus 로고
    • Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy
    • Altherr MR, Bengtsson U, Markovich RP, Winokur ST. Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;2:S32-S38
    • (1995) Muscle Nerve , vol.2
    • Altherr, M.R.1    Bengtsson, U.2    Markovich, R.P.3    Winokur, S.T.4
  • 35
    • 0030984543 scopus 로고    scopus 로고
    • Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)
    • Fisher J, Upadhyaya M. Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). Neuromusc Disord 1997; 7:55-62
    • (1997) Neuromusc Disord , vol.7 , pp. 55-62
    • Fisher, J.1    Upadhyaya, M.2
  • 36
    • 0028918407 scopus 로고
    • Facioscapulohumeral muscular dystrophy in the Dutch population
    • Padberg GW, Frants RR, Brouwer OF, et al. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 1995;2(Suppl):S81-S84
    • (1995) Muscle Nerve , vol.2 , Issue.SUPPL.
    • Padberg, G.W.1    Frants, R.R.2    Brouwer, O.F.3
  • 37
    • 0029791312 scopus 로고    scopus 로고
    • Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis
    • Kohler J, Rupilius B, Otto M, Bathke K, Koch MC. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis. Hum Genet 1996;98:485-490
    • (1996) Hum Genet , vol.98 , pp. 485-490
    • Kohler, J.1    Rupilius, B.2    Otto, M.3    Bathke, K.4    Koch, M.C.5
  • 38
    • 0029913030 scopus 로고    scopus 로고
    • Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
    • Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996;33:361-365
    • (1996) J Med Genet , vol.33 , pp. 361-365
    • Deidda, G.1    Cacurri, S.2    Piazzo, N.3    Felicetti, L.4
  • 39
    • 0032079336 scopus 로고    scopus 로고
    • The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females
    • Zatz M, Marie SK, Cerqueira A, et al. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet 1998; 77:155-161
    • (1998) Am J Med Genet , vol.77 , pp. 155-161
    • Zatz, M.1    Marie, S.K.2    Cerqueira, A.3
  • 40
    • 0029041708 scopus 로고
    • Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter
    • Deidda G, Cacurri S, Grisanti P, et al. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet 1995;3:155-167
    • (1995) Eur J Hum Genet , vol.3 , pp. 155-167
    • Deidda, G.1    Cacurri, S.2    Grisanti, P.3
  • 41
    • 0029827344 scopus 로고    scopus 로고
    • Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counseling and etiology of FSHD1
    • van Deutekom JC, Bakker E, Lemmers RJ, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counseling and etiology of FSHD1. Hum Mol Genet 1996;5:1997-2003
    • (1996) Hum Mol Genet , vol.5 , pp. 1997-2003
    • Van Deutekom, J.C.1    Bakker, E.2    Lemmers, R.J.3
  • 42
    • 7344231685 scopus 로고    scopus 로고
    • Inter-and intrachromosomal sub-telomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
    • Lemmers Rjlf, van der Maarel SM, van Deutekom JCT, et al. Inter-and intrachromosomal sub-telomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet 1998; 7:1207-1214
    • (1998) Hum Mol Genet , vol.7 , pp. 1207-1214
    • Rjlf, L.1    Van Der Maarel, S.M.2    Van Deutekom, J.C.T.3
  • 43
    • 0027744223 scopus 로고
    • FSHD associated DNA rearrangements are due to large deletions of integral copies of a 3.2 Kb tandemly repeated unit
    • Van Deutekom JCT, Wijmenga C, Van Tienhoven EAE, et al. FSHD associated DNA rearrangements are due to large deletions of integral copies of a 3.2 Kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-2042
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • Van Deutekom, J.C.T.1    Wijmenga, C.2    Van Tienhoven, E.A.E.3
  • 44
    • 0030949864 scopus 로고    scopus 로고
    • Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan
    • Hsu YD, Kao MC, Shyu WC, et al. Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan. J Neurol Sci 1997;149:73-79
    • (1997) J Neurol Sci , vol.149 , pp. 73-79
    • Hsu, Y.D.1    Kao, M.C.2    Shyu, W.C.3
  • 45
    • 0027429123 scopus 로고
    • Genetics of facioscapulohumeral muscular dystrophy: New mutations in sporadic cases
    • Griggs RC, Tawil R, Storvick D, et al. Genetics of facioscapulohumeral muscular dystrophy: New mutations in sporadic cases. Neurology 1993;43:2369-2372
    • (1993) Neurology , vol.43 , pp. 2369-2372
    • Griggs, R.C.1    Tawil, R.2    Storvick, D.3
  • 46
    • 0028833769 scopus 로고
    • High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
    • Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 1995;56:99-105
    • (1995) Am J Hum Genet , vol.56 , pp. 99-105
    • Zatz, M.1    Marie, S.K.2    Passos-Bueno, M.R.3
  • 47
    • 0029984970 scopus 로고    scopus 로고
    • Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
    • Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996;39:744-748
    • (1996) Ann Neurol , vol.39 , pp. 744-748
    • Tawil, R.1    Forrester, J.2    Griggs, R.C.3
  • 48
    • 0028952903 scopus 로고
    • Monozygotic twins with facioscapulohumeral dystrophy (FSHD): Implications for genotype/phenotype correlations
    • Griggs RC, Tawil R, McDermott M, et al. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): Implications for genotype/phenotype correlations. Muscle Nerve 1995;2:S50-S55
    • (1995) Muscle Nerve , vol.2
    • Griggs, R.C.1    Tawil, R.2    McDermott, M.3
  • 49
    • 0028303398 scopus 로고
    • The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease
    • Winokur ST, Bengtsson U, Feddersen J. et al. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease. Chromosom Res 1994;2:225-234
    • (1994) Chromosom Res , vol.2 , pp. 225-234
    • Winokur, S.T.1    Bengtsson, U.2    Feddersen, J.3
  • 50
    • 0027300285 scopus 로고
    • Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events
    • Weiffenbach B, Dubois J, Storvick D, et al. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events. Nature Genet 1993; 4:165-169
    • (1993) Nature Genet , vol.4 , pp. 165-169
    • Weiffenbach, B.1    Dubois, J.2    Storvick, D.3
  • 51
    • 9244232833 scopus 로고    scopus 로고
    • Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
    • van Deutekom JC, Lemmers RJ, Grewal PK, et al. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 1996;5:581-590
    • (1996) Hum Mol Genet , vol.5 , pp. 581-590
    • Van Deutekom, J.C.1    Lemmers, R.J.2    Grewal, P.K.3
  • 52
    • 0027433246 scopus 로고
    • Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)
    • Gilbert JR, Stajich JM, Wall S, et al. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1993;53:401-408
    • (1993) Am J Hum Genet , vol.53 , pp. 401-408
    • Gilbert, J.R.1    Stajich, J.M.2    Wall, S.3
  • 53
    • 0028009711 scopus 로고
    • Report of the sixth International Workshop on Facioscapulohumeral Muscular Dystrophy. San Francisco, 11 November 1992; and current guidelines for clinical application of DNA rearrangements at locus D4S810
    • Lunt PW. Report of the sixth International Workshop on Facioscapulohumeral Muscular Dystrophy. San Francisco, 11 November 1992; and current guidelines for clinical application of DNA rearrangements at locus D4S810. Neuromusc Disord 1994;4:83-86
    • (1994) Neuromusc Disord , vol.4 , pp. 83-86
    • Lunt, P.W.1
  • 54
    • 0026335673 scopus 로고
    • Diagnostic criteria for facioscapulohumeral muscular dystrophy
    • Padberg GW, Lunt PW, Koch M, Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromusc Disord 1991;4:231-234
    • (1991) Neuromusc Disord , vol.4 , pp. 231-234
    • Padberg, G.W.1    Lunt, P.W.2    Koch, M.3    Fardeau, M.4
  • 56
    • 0028887103 scopus 로고
    • Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus
    • Tawil R, Myers GJ, Weiffenbach B, Griggs RC. Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. Arch Neurol 1995;52:1069-1072
    • (1995) Arch Neurol , vol.52 , pp. 1069-1072
    • Tawil, R.1    Myers, G.J.2    Weiffenbach, B.3    Griggs, R.C.4
  • 57
    • 9244247344 scopus 로고    scopus 로고
    • Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy
    • Wilhelmsen KC, Blake DM, Lynch T, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996;39:507-520
    • (1996) Ann Neurol , vol.39 , pp. 507-520
    • Wilhelmsen, K.C.1    Blake, D.M.2    Lynch, T.3
  • 58
    • 0002831627 scopus 로고
    • Facioscapulohumeral and scapuloperoneal syndromes
    • Vinken PJ, Bruyn GW, Klawans H, eds. rev 18. Myopathies. Amsterdam: Elsevier Science
    • Munsat TL, Serratrice G. Facioscapulohumeral and scapuloperoneal syndromes. In: Vinken PJ, Bruyn GW, Klawans H, eds. Handbook of clinical neurology. Vol 62, rev 18. Myopathies. Amsterdam: Elsevier Science, 1992:162-177
    • (1992) Handbook of Clinical Neurology , vol.62 , pp. 162-177
    • Munsat, T.L.1    Serratrice, G.2
  • 59
    • 0345395004 scopus 로고    scopus 로고
    • Autosomal dominant limb-girdle muscular dystrophy
    • Lane RJM, ed. New York: Marcel Dekker
    • Verma A, Bradley WG. Autosomal dominant limb-girdle muscular dystrophy. In: Lane RJM, ed. Handbook of muscle disease. New York: Marcel Dekker, 1996:287-309
    • (1996) Handbook of Muscle Disease , pp. 287-309
    • Verma, A.1    Bradley, W.G.2
  • 60
    • 0027195365 scopus 로고
    • Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. Review of seventeen procedures with three to twenty-one-year follow-up
    • Bunch WH, Siegel IM. Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. Review of seventeen procedures with three to twenty-one-year follow-up. J Bone Joint Surg (AM) 1993;75:372-376
    • (1993) J Bone Joint Surg (AM) , vol.75 , pp. 372-376
    • Bunch, W.H.1    Siegel, I.M.2
  • 61
    • 0029899880 scopus 로고    scopus 로고
    • Anatomo-experimental study for lace fixation of winged scapula in muscular dystrophy
    • Heller KD, Prescher A, Forst J, Stadtmuller A, Forst R. Anatomo-experimental study for lace fixation of winged scapula in muscular dystrophy. Surg Radiol Anat 1996;18:75-79
    • (1996) Surg Radiol Anat , vol.18 , pp. 75-79
    • Heller, K.D.1    Prescher, A.2    Forst, J.3    Stadtmuller, A.4    Forst, R.5
  • 62
    • 0027489853 scopus 로고
    • Simplified technique for scapulocostal fusion in facioscapulohumeral dystrophy
    • Jakab E, Gledhill RB. Simplified technique for scapulocostal fusion in facioscapulohumeral dystrophy. J Pediatr Orthop 1993; 13:749-751
    • (1993) J Pediatr Orthop , vol.13 , pp. 749-751
    • Jakab, E.1    Gledhill, R.B.2
  • 63
    • 0031031974 scopus 로고    scopus 로고
    • A pilot trial of prednisone in facioscapulohumeral muscular dystrophy
    • Tawil R, McDermott MP, Pandya S, et al. A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. Neurology 1997;48:46-49
    • (1997) Neurology , vol.48 , pp. 46-49
    • Tawil, R.1    McDermott, M.P.2    Pandya, S.3
  • 64
    • 0031815906 scopus 로고    scopus 로고
    • Pilot trial of albuterol in facioscapulohumeral muscular dystrophy
    • Kissel JT, McDermott MP, Natarajan R, et al. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. Neurology 1998;;50:1402-1406
    • (1998) Neurology , vol.50 , pp. 1402-1406
    • Kissel, J.T.1    McDermott, M.P.2    Natarajan, R.3


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