Arnold W David, Flanigan Kevin M
Division of Neuromuscular Disorders, Department of Neurology, Wexner Medical Center at the Ohio State University, The Ohio State University, 395 W. 12th Avenue, 7th Floor, Columbus, OH 43210, USA.
Phys Med Rehabil Clin N Am. 2012 Aug;23(3):589-608. doi: 10.1016/j.pmr.2012.06.002.
Molecular diagnosis is an important aspect in the care of patients with neuromuscular disorders. Because of the rapidly evolving nature of the field, the approach to obtaining a molecular diagnosis may be challenging. This article provides a general approach to molecular diagnostic testing while reviewing the principles of genetics and genetic disorders and the indications and limitations of testing methods in common hereditary neuromuscular disorders.
分子诊断是神经肌肉疾病患者护理中的一个重要方面。由于该领域的快速发展，获得分子诊断的方法可能具有挑战性。本文提供了一种分子诊断测试的通用方法，同时回顾了遗传学和遗传疾病的原理以及常见遗传性神经肌肉疾病检测方法的适应症和局限性。
