Commentary

[摘要] The authors describe a case of Charcot–Marie–Tooth disease (CMT) referred to a lipid clinic for management of combined hyperlipidemia. An increased creatine kinase concentration led to a more thorough workup, including physical, electrophysiology, and family history evaluations, the results of which were consistent with a diagnosis of CMT.The patient was tested for 2 of the most common causes of CMT: duplication of the PMP22 2 (peripheral myelin protein 22) gene (which accounts for approximately 67% of demyelinating CMT cases) and mutations in the MPZ (myelin protein zero) gene (approximately 10% of demyelinating CMT cases) …

[学科分类] 过敏症与临床免疫学