Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Neuromuscul Disord. 2012 Feb;22(2):166-9. doi: 10.1016/j.nmd.2011.08.005. Epub 2011 Sep 21.
Charcot-Marie-Tooth type 1B (CMT1B) is a demyelinating neuropathy caused by mutations in the myelin protein zero (MPZ) gene. Here, we describe a patient with CMT1B with focally folded myelin, a rarely reported phenotype of CMT1B, who initially presented with multiple entrapment neuropathies. She complained of palmar dysesthesia on both sides and on both soles of her feet in her 30's. She underwent bilateral carpal and tarsal tunnel release at age 44, which provided transient relief from the symptoms. A sural nerve biopsy performed at age 49 revealed focally folded myelin. Molecular genetic analysis revealed a novel Asn131Ser mutation in MPZ.
腓骨肌萎缩症 1B 型（CMT1B）是一种脱髓鞘神经病，由髓鞘蛋白零（MPZ）基因突变引起。本文描述了一位 CMT1B 患者伴局限性折叠髓鞘，这是 CMT1B 一种罕见的表型，患者最初表现为多发性嵌压性神经病。她在 30 多岁时出现双侧手掌和足底感觉异常。44 岁时，她接受了双侧腕管和跗管松解术，症状得到了短暂缓解。49 岁时进行的腓肠神经活检显示局限性折叠髓鞘。分子遗传学分析显示 MPZ 中的一个新的 Asn131Ser 突变。
