The role of muscle biopsy in the age of genetic testing

被引：6
作者：
O'Ferrall, Erin K. [1 ]
Sinnreich, Michael [1 ]
机构：
[1] McGill Univ, Dept Neurol & Neurosurg, Montreal Neurol Inst, Montreal, PQ H3A 2B4, Canada
来源：
CURRENT OPINION IN NEUROLOGY | 2009年 / 22卷 / 05期
关键词：
molecular genetic testing; muscle biopsy; muscular dystrophy; myopathology; myopathy; FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY; MYOTONIC-DYSTROPHY; CONGENITAL MYOPATHIES; NUCLEAR-ENVELOPE; DANON-DISEASE; DMD GENE; MUTATION; DEFICIENCY; DELETIONS; DISORDERS;
D O I：
10.1097/WCO.0b013e32832ffc60
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Purpose of review The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing. Recent findings The diagnostic approach to patients with suspected genetically determined myopathies has been altered by recent advances in molecular diagnostic technologies and by the increased number of conditions for which the genetic alterations have been identified. Myopathological aspects can narrow down the differential diagnosis when the clinical phenotype is not informative enough and can help guide the molecular investigation. Summary Here, we review genetic and myopathological aspects of selected genetically determined myopathies.
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页码：543 / 553
页数：11
相关论文
共 74 条
  • [1] A CONVENIENT MULTIPLEX PCR SYSTEM FOR THE DETECTION OF DYSTROPHIN GENE DELETIONS - A COMPARATIVE-ANALYSIS WITH CDNA HYBRIDIZATION SHOWS MISTYPINGS BY BOTH METHODS
    ABBS, S
    YAU, SC
    CLARK, S
    MATHEW, CG
    BOBROW, M
    [J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (05) : 304 - 311
  • [2] Caveolinopathy - New mutations and additional symptoms
    Aboumousa, Ahmed
    Hoogendijk, Jessica
    Charlton, Richard
    Barresi, Rita
    Herrmann, Ralf
    Voit, Thomas
    Hudson, Judith
    Roberts, Mark
    Hilton-Jones, David
    Eagle, Michelle
    Bushby, Kate
    Straub, Volker
    [J]. NEUROMUSCULAR DISORDERS, 2008, 18 (07) : 572 - 578
  • [3] AOKI M, 2004, GENEREVIEW GENETESTS
  • [4] ARAHATA K, 1995, MUSCLE NERVE, pS56
  • [5] ARENAS J, 2005, GENEREVIEWS GENETEST
  • [6] BEGGS AH, 1990, HUM GENET, V86, P45
  • [7] Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
    Bennett, Richard R.
    den Dunnen, Johan
    O'Brien, Kristine F.
    Darras, Basil T.
    Kunkel, Louis M.
    [J]. BMC GENETICS, 2001, 2 (1)
  • [8] Recent studies on oculopharyngeal muscular dystrophy in Quebec
    Bouchard, JP
    Brais, B
    Brunet, D
    Gould, PV
    Rouleau, GA
    [J]. NEUROMUSCULAR DISORDERS, 1997, 7 : S22 - S29
  • [9] BRAIS S, 2001, GENEREVIEWS GENETEST
  • [10] BRUNO C, 1997, GENEREVIEWS GENETEST
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