牙病
表型
因果关系(物理学)
遗传学
生殖系
疾病
基因
肌营养不良蛋白
医学
临床表型
生物
生物信息学
病理
物理
量子力学
作者
Rafael Sivera,Ana L. Pelayo‐Negro,Ivonne Jericó,Cristina Domínguez‐González,Alejandro Horga,Francisco Javier Rodríguez de Rivera Garrido,Elena Gallardo,Josep Puig,Laura Bermejo-Guerrero,Maria Inmaculada Pagola Lorz,Inmaculada Azorı́n,Marta Córdoba,María Fenollar‐Cortés,Elvira Millet,F Prieto,Carmen Espinós,María Apellániz-Ruiz,Teresa Sevilla
出处
期刊:Neurology
[Ovid Technologies (Wolters Kluwer)]
日期:2024-04-09
卷期号:102 (7)
标识
DOI:10.1212/wnl.0000000000209174
摘要
Germline truncating variants in the DRP2 gene (encoding dystrophin-related protein 2) cause the disruption of the periaxin-DRP2-dystroglycan complex and have been linked to Charcot-Marie-Tooth disease. However, the causality and the underlying phenotype of the genetic alterations are not clearly defined.
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