Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review

Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical feat...

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Detalles Bibliográficos
Autores principales: Comella, M., Collotta, A., Pavone, V., Ciccia, L., Bellinvia, A., Cerruto, C., Biondi, M. G. L., Pisani, F., Pavone, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017559/
https://www.ncbi.nlm.nih.gov/pubmed/35449525
http://dx.doi.org/10.1155/2022/3793226

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