Centre per el Diagnóstic Genètic i Molecular de Malaties Hereditaries, Intitut de Investigacions biomèdiques de Bellvitge (Idibell), Barcelona, Spain.
Muscle Nerve. 2010 Aug;42(2):184-8. doi: 10.1002/mus.21643.
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four-generation family. All the affected members of the family had a typical CMT phenotype, but three of them had calf hypertrophy. The nerve conduction velocities (NCV) in all of them were between 35 and 43 m/s. Molecular study revealed the novel mutation Lys214Met in the MPZ gene. Molecular study of the MPZ gene would be useful in cases of CMT in families with intermediate NCV, especially if no mutations in the GJB-1 gene are found or there is male-to-male transmission.
遗传性感觉运动神经病包括多种夏科-马里-图什病（CMT）。髓鞘蛋白零（MPZ）基因突变可导致不同表型：CMT1（传导速度降低）、CMT2（不常见，传导速度不受影响）和 CMTID（传导速度中等）。我们报告了一个四世代家族的七名患者的研究。该家族的所有受影响成员均具有典型的 CMT 表型，但其中三人有小腿肥大。他们所有人的神经传导速度（NCV）均在 35 至 43 m/s 之间。分子研究发现了 MPZ 基因中的新突变 Lys214Met。在 NCV 处于中间水平的 CMT 家族中，对 MPZ 基因进行分子研究很有用，特别是在未发现 GJB-1 基因突变或存在男性到男性的遗传传递时。
