Chance P F, Ashizawa T, Hoffman E P, Crawford T O
Neurogenetics Laboratory, Children's Hospital of Philadelphia, Pennsylvania, USA.
Phys Med Rehabil Clin N Am. 1998 Feb;9(1):49-81, vi.
For many neuromuscular disorders, the chromosomal location is known, the causal gene has been identified, and direct application of this knowledge may be made in a clinical setting. The benefits resulting from molecular-based methods include improved diagnostic accuracy and genetic counseling for patients and other at risk family members. This chapter discusses in detail four of the most frequently encountered neuromuscular disorders. These diseases include spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, Duchenne/Becker type muscular dystrophy, and myotonic dystrophy.
对于许多神经肌肉疾病，其染色体定位已明确，致病基因已被鉴定，并且这一知识可直接应用于临床。基于分子方法带来的益处包括提高诊断准确性以及为患者和其他有风险的家庭成员提供遗传咨询。本章详细讨论了四种最常见的神经肌肉疾病。这些疾病包括脊髓性肌萎缩症、夏科-马里-图斯型周围神经病、杜兴/贝克型肌营养不良症以及强直性肌营养不良症。
