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Volumn 9, Issue 1, 2005, Pages 30-36

Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME 4Q; CONTROLLED STUDY; CORRELATION ANALYSIS; EPIDEMIOLOGICAL DATA; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PHENOTYPE; POPULATION GENETICS; PREVALENCE; SCHOOL CHILD; STATISTICAL SIGNIFICANCE;

EID: 17844393135     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2005.9.30     Document Type: Article
Times cited : (10)

References (39)
  • 1
    • 0028177342 scopus 로고
    • CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
    • ANDREW, S.E., GOLDBERG, Y.P., THEILMANN, J., et al. (1994). CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum. Mol. Genet. 3, 65-67.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 65-67
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3
  • 2
    • 0029020722 scopus 로고
    • Early diagnosis of Duchenne muscular dystrophy
    • APPLETON, R.E., and NICOLAIDES, P. (1995). Early diagnosis of Duchenne muscular dystrophy. Lancet 345, 1243-1244.
    • (1995) Lancet , vol.345 , pp. 1243-1244
    • Appleton, R.E.1    Nicolaides, P.2
  • 3
    • 0041379846 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers
    • BUTZ, M., KOCH, M.C., MULLER-FELBER, W., et al. (2003). Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J. Neurol. 8, 932-937.
    • (2003) J. Neurol. , vol.8 , pp. 932-937
    • Butz, M.1    Koch, M.C.2    Muller-Felber, W.3
  • 4
    • 0027933030 scopus 로고
    • Chromosome 4q35 haplotype and DNA rearrangement segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)
    • CACURRI, S., DEIDDA, G., PIAZZO, N., et al. (1994). Chromosome 4q35 haplotype and DNA rearrangement segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD). Hum. Genet. 94, 367-374.
    • (1994) Hum. Genet. , vol.94 , pp. 367-374
    • Cacurri, S.1    Deidda, G.2    Piazzo, N.3
  • 5
    • 0032231371 scopus 로고    scopus 로고
    • Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy
    • CACURRI, S., PIAZZO, N., DEIDDA, G., et al. (1998). Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 63, 181-190.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 181-190
    • Cacurri, S.1    Piazzo, N.2    Deidda, G.3
  • 7
    • 0032055028 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy: Molecular studies, 19-21 July 1996, Naarden, the Netherlands
    • 4th ENMC International Workshop
    • 4th ENMC International Workshop. (1998). Facioscapulohumeral muscular dystrophy: molecular studies, 19-21 July 1996, Naarden, The Netherlands. Neuromusc. Disord. 8, 126-130.
    • (1998) Neuromusc. Disord. , vol.8 , pp. 126-130
  • 8
    • 0028040601 scopus 로고
    • Analysis of the tandem repeat locus D4Z4associated with facioscapulohumeral muscular dystrophy
    • HEWITT, J.E., LYLE, R., CLARK, L.N., et al. (1994). Analysis of the tandem repeat locus D4Z4associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 3, 1287-1295.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1287-1295
    • Hewitt, J.E.1    Lyle, R.2    Clark, L.N.3
  • 9
    • 0024308793 scopus 로고
    • Estimation of age dependent penetrance in facioscapulohumeral muscular dustrophy by minimum accertainment bias
    • LUNT, P.W., COMPSTON, D.A., and HARPER, P.S. (1989). Estimation of age dependent penetrance in facioscapulohumeral muscular dustrophy by minimum accertainment bias. J. Med. Genet. 26, 755-760.
    • (1989) J. Med. Genet. , vol.26 , pp. 755-760
    • Lunt, P.W.1    Compston, D.A.2    Harper, P.S.3
  • 10
    • 0025836092 scopus 로고
    • Genetic counselling in facioscapulohumeral muscular dystrophy
    • LUNT, P.W., and HARPER, P.S. (1991). Genetic counselling in facioscapulohumeral muscular dystrophy. J. Med. Genet. 28, 655-664.
    • (1991) J. Med. Genet. , vol.28 , pp. 655-664
    • Lunt, P.W.1    Harper, P.S.2
  • 11
    • 0032055028 scopus 로고    scopus 로고
    • 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, the Netherlands
    • LUNT, P.W. (1998). 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands. Neuromusc. Disord. 8, 126-130.
    • (1998) Neuromusc. Disord. , vol.8 , pp. 126-130
    • Lunt, P.W.1
  • 12
    • 0029160144 scopus 로고
    • Dystrophin characterization in BMD patients: Correlation of abnormal protein with clinical phenotype
    • MORANDI, L., MORA, M., CONFALONIERI, V., et al. (1995). Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. J. Neurol. Sci. 132, 146-155.
    • (1995) J. Neurol. Sci. , vol.132 , pp. 146-155
    • Morandi, L.1    Mora, M.2    Confalonieri, V.3
  • 13
    • 0032976224 scopus 로고    scopus 로고
    • Definitive molecular diagnosis of facioscapulohumeral dystrophy
    • ORRELL, R.W., TAWIL, R., FORRESTER, J., et al. (1999). Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 52, 1822-1826.
    • (1999) Neurology , vol.52 , pp. 1822-1826
    • Orrell, R.W.1    Tawil, R.2    Forrester, J.3
  • 14
    • 0004164234 scopus 로고
    • Thesis. (Leiden University, Leiden, The Netherlands)
    • PADBERG, G.W. (1982). "Facioscapulohumeral disease." Thesis. (Leiden University, Leiden, The Netherlands).
    • (1982) Facioscapulohumeral Disease
    • Padberg, G.W.1
  • 15
    • 0028918407 scopus 로고
    • Facioscapulohumeral muscular dystrophy in the Dutch population
    • PADBERG, G.W., FRANTS, R.R., BROUWER, O.F., et al. (1995). Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 2, S81-S84.
    • (1995) Muscle Nerve , vol.2
    • Padberg, G.W.1    Frants, R.R.2    Brouwer, O.F.3
  • 16
    • 0027159740 scopus 로고
    • No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy (FSHD) with 4q markers
    • PASSOS-BUENO, M.R., WIJMENGA, C., TAKATA, R.E., et al. (1993). No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy (FSHD) with 4q markers. Hum. Mol. Genet. 2, 557-562.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 557-562
    • Passos-Bueno, M.R.1    Wijmenga, C.2    Takata, R.E.3
  • 17
    • 0032978703 scopus 로고    scopus 로고
    • Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
    • RICCI, E., GALLUZZI, G., DEIDDA, G., et al. (1999). Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann. Neurol. 45, 751-757.
    • (1999) Ann. Neurol. , vol.45 , pp. 751-757
    • Ricci, E.1    Galluzzi, G.2    Deidda, G.3
  • 18
    • 0021419378 scopus 로고
    • Epidemiology of progressive muscular dystrophy in northwestern Tuscany
    • ROSSI, B., SICILIANO, G., SARTUCCI, F., et al. (1984). Epidemiology of progressive muscular dystrophy in northwestern Tuscany. Acta Neurolog. 39, 125-133.
    • (1984) Acta Neurolog. , vol.39 , pp. 125-133
    • Rossi, B.1    Siciliano, G.2    Sartucci, F.3
  • 19
    • 0027936725 scopus 로고
    • Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia
    • RUBINSZTEIN, D.C., LEGGO, J., GOODBURN, S., et al. (1994). Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia. J. Med. Genet. 31, 690-693.
    • (1994) J. Med. Genet. , vol.31 , pp. 690-693
    • Rubinsztein, D.C.1    Leggo, J.2    Goodburn, S.3
  • 20
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • RUBINSZTEIN, D.C., LEGGO, J., COLES, R., et al. (1996). Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59, 16-22.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1    Leggo, J.2    Coles, R.3
  • 21
    • 0026702158 scopus 로고
    • Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: Combined analysis of an international consortium
    • SARFARAZI, M., WIJMENGA, C., UPADHYAYA, M., et al. (1992). Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am. J. Hum. Genet. 51, 396-403.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 396-403
    • Sarfarazi, M.1    Wijmenga, C.2    Upadhyaya, M.3
  • 22
    • 0032865972 scopus 로고    scopus 로고
    • Epidemiology of dystrophynopaties in northwestern Tuscany: A molecular genetics-based revisitation
    • SICILIANO, G., TESSA, A., RENNA, M., et al. (1999). Epidemiology of dystrophynopaties in northwestern Tuscany: a molecular genetics-based revisitation. Clin. Genet. 56, 51-58.
    • (1999) Clin. Genet. , vol.56 , pp. 51-58
    • Siciliano, G.1    Tessa, A.2    Renna, M.3
  • 23
    • 0031915927 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis
    • TAWIL, R., FIGLEWICZ, D.A., GRIGGS, R.C., et al. and the FSH Consortium. (1998). Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. Ann. Neurol. 43, 279-282.
    • (1998) Ann. Neurol. , vol.43 , pp. 279-282
    • Tawil, R.1    Figlewicz, D.A.2    Griggs, R.C.3
  • 24
    • 0028280848 scopus 로고
    • Facioscapulohumeral muscular dystrophy: Design of natural history study and results of baseline testing
    • TAWIL, R., McDERMOTT, J.P., MENDELL, J.R., et al. (1994). Facioscapulohumeral muscular dystrophy: design of natural history study and results of baseline testing. Neurology 44, 442-446.
    • (1994) Neurology , vol.44 , pp. 442-446
    • Tawil, R.1    McDermott, J.P.2    Mendell, J.R.3
  • 25
    • 0028887103 scopus 로고
    • Scapuloperoneal syndromes: Absence of linkage to 4q35 FSHD locus
    • TAWIL, R., MYERS, G.J., WEIFFENBACH, B., et al. (1995). Scapuloperoneal syndromes: absence of linkage to 4q35 FSHD locus. Arch. Neurol. 52, 1069-1072.
    • (1995) Arch. Neurol. , vol.52 , pp. 1069-1072
    • Tawil, R.1    Myers, G.J.2    Weiffenbach, B.3
  • 26
    • 1642377315 scopus 로고    scopus 로고
    • Molecular basis of facioscapulohumeral muscular dystrophy
    • TUPLER, R., and GABELLINI, D. (2004). Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol. Life Sci. 61, 557-566.
    • (2004) Cell Mol. Life Sci. , vol.61 , pp. 557-566
    • Tupler, R.1    Gabellini, D.2
  • 27
    • 0026693595 scopus 로고
    • The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)
    • UPADHYAYA, M., LUNT, P., SARFARAZI, M., et al. (1992). The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am. J. Hum. Genet. 51, 404-410.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 404-410
    • Upadhyaya, M.1    Lunt, P.2    Sarfarazi, M.3
  • 28
    • 0027236404 scopus 로고
    • Molecular analysis of British facioscapulohumeral muscular dystrophy families for 4q DNA rearrangements
    • UPADHYAYA, M., JARDINE, P., MAYNARD, J., et al. (1993). Molecular analysis of British facioscapulohumeral muscular dystrophy families for 4q DNA rearrangements. Hum. Mol. Genet. 2, 981-987.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 981-987
    • Upadhyaya, M.1    Jardine, P.2    Maynard, J.3
  • 29
    • 0030909143 scopus 로고    scopus 로고
    • Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
    • UPADHYAYA, M., MAYNARD, J., ROGERS, M.T., et al. (1999). Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J. Med. Genet. 34, 476-479.
    • (1999) J. Med. Genet. , vol.34 , pp. 476-479
    • Upadhyaya, M.1    Maynard, J.2    Rogers, M.T.3
  • 30
    • 0029827344 scopus 로고    scopus 로고
    • Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosome 4q35 and 10q26: Implications for genetic counselling and aetiology of FSHD
    • VAN DEUTEKOM, J.C., BAKKER, E., LEMMERS, R.J., et al. (1997). Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosome 4q35 and 10q26: implications for genetic counselling and aetiology of FSHD. Hum. Mol. Genet. 5, 1997-2003.
    • (1997) Hum. Mol. Genet. , vol.5 , pp. 1997-2003
    • Van Deutekom, J.C.1    Bakker, E.2    Lemmers, R.J.3
  • 31
    • 0345257778 scopus 로고    scopus 로고
    • Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    • VAN OVERVELD, P.G.M., LEMMERS, R., SANDKUIJL, L.A., et al. (2003). Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nature Genet. 4, 315-317.
    • (2003) Nature Genet. , vol.4 , pp. 315-317
    • Van Overveld, P.G.M.1    Lemmers, R.2    Sandkuijl, L.A.3
  • 32
    • 0036220748 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy with Eco RI/BlnI fragment size of more than 32 kb
    • VIELHABER, S., JAKUBICZKA, S., SCHRODER, J.M., et al. (2002). Facioscapulohumeral muscular dystrophy with Eco RI/BlnI fragment size of more than 32 kb. Muscle Nerve 25, 540-548.
    • (2002) Muscle Nerve , vol.25 , pp. 540-548
    • Vielhaber, S.1    Jakubiczka, S.2    Schroder, J.M.3
  • 33
    • 0032835742 scopus 로고    scopus 로고
    • Inheritance of a 38 kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy
    • VITELLI, F., VILLANOVA, M., MALANDRINI, A., et al. (1999). Inheritance of a 38 kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy. Muscle Nerve 22, 1437-1441.
    • (1999) Muscle Nerve , vol.22 , pp. 1437-1441
    • Vitelli, F.1    Villanova, M.2    Malandrini, A.3
  • 34
    • 0031747231 scopus 로고    scopus 로고
    • Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease
    • VUILLAUME, I., VERMERSCH, P., DESTEE, A., et al. (1998). Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease. J. Neurol. Neurosurg. Psychiatry 64, 758-762.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.64 , pp. 758-762
    • Vuillaume, I.1    Vermersch, P.2    Destee, A.3
  • 35
    • 0011869153 scopus 로고
    • Progressive muscular dystrophy and myotonic disorders
    • J.N. Walton (ed.). Churchill-Livingstone, Edinburgh, London
    • WALTON, J.N., and GARDNER-MEDWIN, D. (1974). Progressive muscular dystrophy and myotonic disorders. In: J.N. Walton (ed.). (Churchill-Livingstone, Edinburgh, London: Disorders of voluntary muscle.
    • (1974) Disorders of Voluntary Muscle
    • Walton, J.N.1    Gardner-Medwin, D.2
  • 36
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangement associated with facioscapulohumeral muscular dystrophy
    • WIJMENGA, C., HEWITT, J.E., SANDKUIJL, L.A., et al. (1992a.) Chromosome 4q DNA rearrangement associated with facioscapulohumeral muscular dystrophy. Nature Genet. 2, 26-30.
    • (1992) Nature Genet. , vol.2 , pp. 26-30
    • Wijmenga, C.1    Hewitt, J.E.2    Sandkuijl, L.A.3
  • 37
    • 0026781017 scopus 로고
    • Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-ter
    • WIJMENGA, C., SANDKUIJL, L.A., MOERER, P., et al. (1992b). Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-ter. Am. J. Hum. Genet. 51, 411-415.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 411-415
    • Wijmenga, C.1    Sandkuijl, L.A.2    Moerer, P.3
  • 38
    • 1642487857 scopus 로고    scopus 로고
    • FSHD-like patients without 4q35 deletion
    • YAMANAKA, G., GOTO, K., ISHIHARA, T., et al. (2004). FSHD-like patients without 4q35 deletion. J. Neurol. Sci. 219, 89-93.
    • (2004) J. Neurol. Sci. , vol.219 , pp. 89-93
    • Yamanaka, G.1    Goto, K.2    Ishihara, T.3
  • 39
    • 0028833769 scopus 로고
    • High proportion of new mutation and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
    • ZATZ, M., MARIE, S.K., PASSOS-BUENO, M.R., et al. (1995). High proportion of new mutation and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am. J. Hum. Genet. 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


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