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Volumn 16, Issue 9-10, 2006, Pages 553-558

Severe phenotype in infantile facioscapulohumeral muscular dystrophy

Author keywords

Facioscapulohumeral muscular dystrophy; Infantile onset; Muscular weakness

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CORRELATION ANALYSIS; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; FACE MUSCLE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERLORDOSIS; HYPOVENTILATION; INFANT; LORDOSIS; MALE; MOSAICISM; MUSCLE ATROPHY; MUSCLE WEAKNESS; NOCTURNAL HYPOVENTILATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; RISK ASSESSMENT;

EID: 33748573261     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.06.008     Document Type: Article
Times cited : (83)

References (26)
  • 1
    • 0031915927 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis
    • Tawil R., Figlewicz D.A., Griggs R.C., and Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. Ann Neurol 432 (1998) 279-282
    • (1998) Ann Neurol , vol.432 , pp. 279-282
    • Tawil, R.1    Figlewicz, D.A.2    Griggs, R.C.3    Weiffenbach, B.4
  • 4
    • 0028324861 scopus 로고
    • Facioscapulohumeral muscular dystrophy in early childhood
    • Brouwer O.F., Padberg G.W., Wijmenga C., and Frants R.R. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neruol 51 (1994) 387-394
    • (1994) Arch Neruol , vol.51 , pp. 387-394
    • Brouwer, O.F.1    Padberg, G.W.2    Wijmenga, C.3    Frants, R.R.4
  • 5
    • 33748573690 scopus 로고    scopus 로고
    • Padberg GW. Facioscapulohumeral muscular dystrophy: a clinician's experience. In: Upadhyaya M, Cooper DN (eds) Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. New York: Garland Science, 2004; pp 41-54.
  • 6
    • 0026320445 scopus 로고
    • Hearing loss in facioscapulohumeral muscular dystrophy
    • Brouwer O.F., Padberg G.W., Ruys C.J., et al. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 41 (1991) 1878-1881
    • (1991) Neurology , vol.41 , pp. 1878-1881
    • Brouwer, O.F.1    Padberg, G.W.2    Ruys, C.J.3
  • 8
    • 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 P.W., Jardine P.E., Koch M.C., 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 4 (1995) 951-958
    • (1995) Hum Mol Genet , vol.4 , pp. 951-958
    • Lunt, P.W.1    Jardine, P.E.2    Koch, M.C.3
  • 9
    • 0032079336 scopus 로고    scopus 로고
    • The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females
    • Zatz M., Marie S.K., Cerqueira A., Vainzhoff M., Pavanello R.C., and Passos-Bueno M.R. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet 77 (1998) 155-161
    • (1998) Am J Med Genet , vol.77 , pp. 155-161
    • Zatz, M.1    Marie, S.K.2    Cerqueira, A.3    Vainzhoff, M.4    Pavanello, R.C.5    Passos-Bueno, M.R.6
  • 10
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangements associated with facioscapulohumeral dystrophy
    • Wijmenga C., Hewitt J.E., Sandkuijl L.A., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral dystrophy. Nat Genet 2 (1992) 26-30
    • (1992) Nat Genet , vol.2 , pp. 26-30
    • Wijmenga, C.1    Hewitt, J.E.2    Sandkuijl, L.A.3
  • 12
    • 13844251804 scopus 로고    scopus 로고
    • The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy
    • Van der M., and Frants R.R. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet 76 (2005) 375-386
    • (2005) Am J Hum Genet , vol.76 , pp. 375-386
    • Van der, M.1    Frants, R.R.2
  • 13
    • 1642377315 scopus 로고    scopus 로고
    • Molecular basis of facioscapulohumeral muscular dystrophy
    • Tupler R., and Gabellini D. Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol Life Sci 61 (2004) 557-566
    • (2004) Cell Mol Life Sci , vol.61 , pp. 557-566
    • Tupler, R.1    Gabellini, D.2
  • 14
    • 10744222546 scopus 로고    scopus 로고
    • Possible phenotypic dosage effect in patients compound heterozyous for FSHD-sized 4q35 alleles
    • Wohlgemuth M., Lemmers R.J., van der Kooi E.L., et al. Possible phenotypic dosage effect in patients compound heterozyous for FSHD-sized 4q35 alleles. Neurology 61 (2003) 909-913
    • (2003) Neurology , vol.61 , pp. 909-913
    • Wohlgemuth, M.1    Lemmers, R.J.2    van der Kooi, E.L.3
  • 15
    • 0029913030 scopus 로고    scopus 로고
    • Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
    • Deidda G., Cacurri S., Piazzo N., and Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33 (1996) 361-365
    • (1996) J Med Genet , vol.33 , pp. 361-365
    • Deidda, G.1    Cacurri, S.2    Piazzo, N.3    Felicetti, L.4
  • 16
    • 0035194812 scopus 로고    scopus 로고
    • Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
    • Lemmers R.J.L., de Kievit P., van Geel M., et al. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 50 (2001) 816-819
    • (2001) Ann Neurol , vol.50 , pp. 816-819
    • Lemmers, R.J.L.1    de Kievit, P.2    van Geel, M.3
  • 17
    • 0035707952 scopus 로고    scopus 로고
    • Genomic analysis of human chromosome 10q and 4q telomeres suggest a common origin
    • van Geel M., Dickson M.C., Beck A.F., et al. Genomic analysis of human chromosome 10q and 4q telomeres suggest a common origin. Genomics 79 (2002) 210-217
    • (2002) Genomics , vol.79 , pp. 210-217
    • van Geel, M.1    Dickson, M.C.2    Beck, A.F.3
  • 18
    • 8844227430 scopus 로고    scopus 로고
    • Contractions of D4Z4 on 4qB do not cause facioscapulohumeral muscular dystrophy
    • Lemmers R.J.L.F., Wohlgemuth M., Frants R.R., et al. Contractions of D4Z4 on 4qB do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 75 (2004) 1124-1130
    • (2004) Am J Hum Genet , vol.75 , pp. 1124-1130
    • Lemmers, R.J.L.F.1    Wohlgemuth, M.2    Frants, R.R.3
  • 19
    • 0030052273 scopus 로고    scopus 로고
    • Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases
    • Bakker E., Van der Wielen M.J., Voorhoeve E., et al. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet 33 (1996) 29-35
    • (1996) J Med Genet , vol.33 , pp. 29-35
    • Bakker, E.1    Van der Wielen, M.J.2    Voorhoeve, E.3
  • 20
    • 0027939537 scopus 로고
    • De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)
    • Jardine P.E., Koch M.C., Lunt P.W., et al. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child 71 (1994) 221-227
    • (1994) Arch Dis Child , vol.71 , pp. 221-227
    • Jardine, P.E.1    Koch, M.C.2    Lunt, P.W.3
  • 21
    • 0033910121 scopus 로고    scopus 로고
    • De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
    • van der Maarel S.M., Deidda G., Lemmers R.J.L.F., et al. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet 66 (2000) 26-35
    • (2000) Am J Hum Genet , vol.66 , pp. 26-35
    • van der Maarel, S.M.1    Deidda, G.2    Lemmers, R.J.L.F.3
  • 22
    • 0029791312 scopus 로고    scopus 로고
    • Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD 1A) occurring predominantly in oogenesis
    • Kohler J., Rupilius B., Otto M., et al. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD 1A) occurring predominantly in oogenesis. Hum Genet 98 4 (1996) 485-490
    • (1996) Hum Genet , vol.98 , Issue.4 , pp. 485-490
    • Kohler, J.1    Rupilius, B.2    Otto, M.3
  • 23
    • 0022517831 scopus 로고
    • Infantile facioscapulohumeral muscular dystrophy: new observations
    • Bailey R.O., Marzulo D.C., and Hans M.B. Infantile facioscapulohumeral muscular dystrophy: new observations. Acta Neurol Scand 74 (1986) 51-85
    • (1986) Acta Neurol Scand , vol.74 , pp. 51-85
    • Bailey, R.O.1    Marzulo, D.C.2    Hans, M.B.3
  • 24
    • 0020516277 scopus 로고
    • Death in childhood due to facioscapulohumeral muscular dystrophy
    • McGarry J., Garg B., and Silvert S. Death in childhood due to facioscapulohumeral muscular dystrophy. Acta Neurol Scand 68 (1983) 61-63
    • (1983) Acta Neurol Scand , vol.68 , pp. 61-63
    • McGarry, J.1    Garg, B.2    Silvert, S.3
  • 25
    • 3242666915 scopus 로고    scopus 로고
    • Ventilatory support in facioscapulohumeral muscular dystrophy
    • Wohlgemuth M., Van der Kooi E.L., Van Kesteren R.G., et al. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 63 (2004) 176-178
    • (2004) Neurology , vol.63 , pp. 176-178
    • Wohlgemuth, M.1    Van der Kooi, E.L.2    Van Kesteren, R.G.3
  • 26
    • 0346121608 scopus 로고    scopus 로고
    • Face mask spirometry and respiratory pressures in normal subjects
    • Wohlgemuth M., Van der Kooi E.L., Hendriks J.C., et al. Face mask spirometry and respiratory pressures in normal subjects. Eur Respir J 22 (2003) 1001-1006
    • (2003) Eur Respir J , vol.22 , pp. 1001-1006
    • Wohlgemuth, M.1    Van der Kooi, E.L.2    Hendriks, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.