메뉴 건너뛰기




Volumn 19, Issue 1, 2011, Pages 64-69

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHINESE; CHROMOSOME 10; CHROMOSOME 4Q; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE ASSIGNMENT; GENETIC VARIABILITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MYOTONIC DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; TANDEM REPEAT;

EID: 78650069852     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.143     Document Type: Article
Times cited : (16)

References (23)
  • 2
    • 0003223434 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy
    • In: Emery AEH (ed) 2nd edn. London England: Royal Society of Medicine Press
    • Padgerg GW, Lunt PW, Koch M et al: Facioscapulohumeral muscular dystrophy. In: Emery AEH (ed).: Diagnostic Criteria for Neuromuscular Disorders, 2nd edn. London England: Royal Society of Medicine Press, 1997; 9-16.
    • (1997) Diagnostic Criteria for Neuromuscular Disorders , pp. 9-16
    • Padgerg, G.W.1    Lunt, P.W.2    Koch, M.3
  • 3
    • 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. Nat Genet 1992; 2: 26-30.
    • (1992) Nat Genet , vol.2 , pp. 26-30
    • Wijmenga, C.1    Hewitt, J.E.2    Sandkuijl, L.A.3
  • 4
    • 0027744223 scopus 로고
    • FSHD associated DNA rearragements are due to deletions of intergral copies of a 3.2 kb tandemly repeated units
    • Van Deutekom JCT, Wijmenga C, Van Tienhoven EAE et al: FSHD associated DNA rearragements are due to deletions of intergral copies of a 3.2 kb tandemly repeated units. Hum Mol Genet 1993; 2: 2037-2042.
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • Van Deutekom Jct1    Wijmenga, C.2    Van Tienhoven, E.A.E.3
  • 5
    • 0032055028 scopus 로고    scopus 로고
    • 44th ENMC international workshop: Facioscapulohumeral muscular dystrophy: Molecular studies 19-21 July 1996, Naarden, the Netherlands
    • Lunt PW: 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands. Neuromuscul Disord 1998; 8: 126-130.
    • (1998) Neuromuscul Disord , vol.8 , pp. 126-130
    • Lunt, P.W.1
  • 6
    • 0036788610 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
    • Lemmers RJ, de Kievit P, Sandkuijl L et al: Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat genet 2002; 32: 235-236.
    • (2002) Nat Genet , vol.32 , pp. 235-236
    • Lemmers, R.J.1    De Kievit, P.2    Sandkuijl, L.3
  • 8
    • 34147177128 scopus 로고    scopus 로고
    • A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere
    • Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M: A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet 2007; 44: 215-218.
    • (2007) J Med Genet , vol.44 , pp. 215-218
    • Thomas, N.S.1    Wiseman, K.2    Spurlock, G.3    MacDonald, M.4    Ustek, D.5    Upadhyaya, M.6
  • 9
    • 35348907287 scopus 로고    scopus 로고
    • Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
    • Lemmers RJ, Wohlgemuth M, Van der Gaag KJ et al: Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81: 884-894.
    • (2007) Am J Hum Genet , vol.81 , pp. 884-894
    • Lemmers, R.J.1    Wohlgemuth, M.2    Van Der Gaag, K.J.3
  • 10
    • 77649231841 scopus 로고    scopus 로고
    • Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution
    • Lemmers RJ, Van der Vliet PJ, Van der Gaag KJ et al: Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. Am J Hum Genet 2010; 86: 364-377.
    • (2010) Am J Hum Genet , vol.86 , pp. 364-377
    • Lemmers, R.J.1    Van Der Vliet, P.J.2    Van Der Gaag, K.J.3
  • 11
    • 33750337288 scopus 로고    scopus 로고
    • Diagnostic challenges in facioscapulohumeral muscular dystrophy
    • Sacconi S, Salviati L, Bourget I et al: Diagnostic challenges in facioscapulohumeral muscular dystrophy. Neurology 2006; 67: 1464-1466.
    • (2006) Neurology , vol.67 , pp. 1464-1466
    • Sacconi, S.1    Salviati, L.2    Bourget, I.3
  • 12
    • 3543137156 scopus 로고    scopus 로고
    • FSHD in Chinese population: Characteristics of translocation and genotype-phenotype correlation
    • Wu ZY, Wang ZQ, Murong SX, Wang N: FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation. Neurology 2004; 63: 581-583.
    • (2004) Neurology , vol.63 , pp. 581-583
    • Wu, Z.Y.1    Wang, Z.Q.2    Murong, S.X.3    Wang, N.4
  • 13
    • 77954904806 scopus 로고    scopus 로고
    • Characteristics of gene structure in FSHD-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han Population
    • (in Chinese)
    • Wang ZQ, Wu ZY, Wang N et al: Characteristics of gene structure in FSHD-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han Population. Zhonghua Yi Xue Za Zhi 2009; 89: 304-310. (in Chinese).
    • (2009) Zhonghua Yi Xue Za Zhi , vol.89 , pp. 304-310
    • Wang, Z.Q.1    Wu, Z.Y.2    Wang, N.3
  • 14
    • 0032978703 scopus 로고    scopus 로고
    • Progress in the molecular diagnosis of faciosca-pulohumeral muscular dystrophy and correlation of the number of KpnI repeats at the 4q35 locus and clinical phenotype
    • Ricci E, Galluzzi G, Deidda G et al: Progress in the molecular diagnosis of faciosca-pulohumeral muscular dystrophy and correlation of the number of KpnI repeats at the 4q35 locus and clinical phenotype. ANN Neurol 1999; 45: 751-757.
    • (1999) ANN Neurol , vol.45 , pp. 751-757
    • Ricci, E.1    Galluzzi, G.2    Deidda, G.3
  • 15
    • 0038458638 scopus 로고    scopus 로고
    • D4F104S1 deletion in facioscapulohumeral muscular dystrophy: Phenotype, size, and detection
    • Lemmers RJ, Osborn M, Haaf T et al: D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003; 61: 178-183.
    • (2003) Neurology , vol.61 , pp. 178-183
    • Lemmers, R.J.1    Osborn, M.2    Haaf, T.3
  • 16
    • 0033885496 scopus 로고    scopus 로고
    • Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
    • Hack AA, Lam MY, Cordier L et al: Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 2000; 113: 2535-2544.
    • (2000) J Cell Sci , vol.113 , pp. 2535-2544
    • Hack, A.A.1    Lam, M.Y.2    Cordier, L.3
  • 17
    • 20644457129 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy: An immuno-histochemical diagnostic approach
    • Comerlato EA, Scola RH, Werneck LC: Limb-girdle muscular dystrophy: an immuno-histochemical diagnostic approach. Arq Neuropsiquiatr 2005; 63: 235-245.
    • (2005) Arq Neuropsiquiatr , vol.63 , pp. 235-245
    • Comerlato, E.A.1    Scola, R.H.2    Werneck, L.C.3
  • 18
    • 0034705182 scopus 로고    scopus 로고
    • FSH dystrophy 4q35 deletion in patients presents presenting with facial-sparing scapular myopathy
    • Felice KJ, North WA, Moore SA, Mathews KD: FSH dystrophy 4q35 deletion in patients presents presenting with facial-sparing scapular myopathy. Neurology 2000; 54: 1927-1931.
    • (2000) Neurology , vol.54 , pp. 1927-1931
    • Felice, K.J.1    North, W.A.2    Moore, S.A.3    Mathews, K.D.4
  • 19
    • 0141924432 scopus 로고    scopus 로고
    • Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion
    • Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S: Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol 2003; 60: 1421-1425.
    • (2003) Arch Neurol , vol.60 , pp. 1421-1425
    • Krasnianski, M.1    Eger, K.2    Neudecker, S.3    Jakubiczka, S.4    Zierz, S.5
  • 20
    • 0034125804 scopus 로고    scopus 로고
    • Extension of the clinical range of facioscapulohumeral dystrophy: Report of six cases
    • Van Der Kooi AJ, Visser MC, Rosenberg N et al: Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry 2000; 69: 114-116.
    • (2000) J Neurol Neurosurg Psychiatry , vol.69 , pp. 114-116
    • Van Der Kooi, A.J.1    Visser, M.C.2    Rosenberg, N.3
  • 22
    • 0033853176 scopus 로고    scopus 로고
    • Clinical predominance of proximal upper limb weakness in CMT1A syndrome
    • Auer-Grumbach M, Wagner K, Strasser-Fuchs S et al: Clinical predominance of proximal upper limb weakness in CMT1A syndrome. Muscle Nerve 2000; 23: 1243-1249.
    • (2000) Muscle Nerve , vol.23 , pp. 1243-1249
    • Auer-Grumbach, M.1    Wagner, K.2    Strasser-Fuchs, S.3
  • 23
    • 24144469755 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy presenting as infantile facial diplegia and limb-girdle myopathy in members of the same family
    • Felice KJ, Johns JM, Conway SR: Facioscapulohumeral dystrophy presenting as infantile facial diplegia and limb-girdle myopathy in members of the same family. Muscle Nerve 2005; 32: 368-372.
    • (2005) Muscle Nerve , vol.32 , pp. 368-372
    • Felice, K.J.1    Johns, J.M.2    Conway, S.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.