CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are repor...

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Detalles Bibliográficos
Autores principales: Guerriero, Silvana, D’Oria, Francesco, Rossetti, Giacomo, Favale, Rosa Anna, Zoccolella, Stefano, Alessio, Giovanni, Petruzzella, Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039061/
https://www.ncbi.nlm.nih.gov/pubmed/32110117
http://dx.doi.org/10.2147/IMCRJ.S237620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039061/
https://www.ncbi.nlm.nih.gov/pubmed/32110117
http://dx.doi.org/10.2147/IMCRJ.S237620

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