|
|||||
|
|
A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions |
|
| Authors: | Reyes-Marin K Jimenez-Pancho J Pozo Lidia Garcia-Villanueva M de Blas G Vazquez J M Jimenez-Escrig A |
| Affiliation: | a Department of Clinical Neurophysiology, Hospital Ramon y Cajal, Ctra. de Colmenar Viejo km. 9, 100 28034 Madrid, Spain b Department of Neurology, Hospital Universitario Virgen del Rocío, Sevilla, Spain c Department of Neurology, Hospital Ramón y Cajal, Madrid, Spain d Department of Pathology, Hospital Ramon y Cajal, Madrid, Spain |
| Abstract: | Although less common than peripheral myelin protein 22 (PMP22) duplication, there are mutations in myelin protein zero (MPZ) responsible for Charcot-Marie-Tooth disease (CMT) with a number of different clinical profiles. We report here a novel MPZ homozygous mutation, with a peculiar pattern characterized by a late-onset demyelinating profile. In addition, the patient presented brain white matter lesions seemingly ascribable to the mutation. |
| Keywords: | Charcot-Marie-Tooth Demyelinating Myelin protein zero Polyneuropathy White matter lesions |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |