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.
引用
收藏
页码：543 / 553
页数：11
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