Novel mutation in the MPZ 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 current...

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Detalles Bibliográficos
Autores principales: Kozina, Anastasiya Aleksandrovna, Baryshnikova, Natalia Vladimirovna, Ilinskaya, Anna Yurievna, Kim, Anna Alexandrovna, Plotnikov, Nikolay Alekseevich, Pogodina, Nadezhda Andreevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806381/
https://www.ncbi.nlm.nih.gov/pubmed/36567457
http://dx.doi.org/10.1177/03000605221139718

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806381/
https://www.ncbi.nlm.nih.gov/pubmed/36567457
http://dx.doi.org/10.1177/03000605221139718

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