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Abstract：
Charcot-Marie-Tooth (CMT) disease is one of the most common primary hereditary neuropathies causing peripheral neuropathies. More than 60 different gene mutations are causing this disease. The PRX gene codes for Periaxin proteins that are expressed by Schwann cells and are necessary for the formation and maintenance of myelination of peripheral nerves. Dejerine-Sottas neuropathy and Charcot-Marie-Tooth type 4F (CMT4F) are the two different clinical phenotypes observed in association with PRX gene mutation. This article describes a case of an elderly male with a novel mutation involving the PRX gene.
摘要：
Charcot-Marie-Tooth（CMT）病是引起周围神经病的最常见的原发性遗传性神经病之一。超过60种不同的基因突变导致这种疾病。PRX基因编码雪旺氏细胞表达的Peraxin蛋白，是周围神经髓鞘形成和维持所必需的。Dejerine-Sottas神经病和Charcot-Marie-Tooth4F型（CMT4F）是与PRX基因突变相关的两种不同的临床表型。本文描述了一例涉及PRX基因的新突变的老年男性。
