Novel mutation in the gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

Novel mutation in the gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 ( PMP22) , myelin protein zero ( MPZ ), gap junction protein beta1 ( GJB1 ) and mitofusin2 ( MFN2 ). This...

Full description

Bibliographic Details
Main Authors: Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Format: Article
Language:English
Published: SAGE Publishing 2022-12-01
Series:Journal of International Medical Research
Online Access:https://doi.org/10.1177/03000605221139718

Internet

https://doi.org/10.1177/03000605221139718

Similar Items