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Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene

Background and aim of the work: Childhood-onset peripheral neuropathies are often of genetic origin. Charcot-Marie-Tooth (CMT), is considered the commonest neuromuscular disorder. Due to its high clinical heterogeneity, especially in the pediatric age, the co-existence of central and peripheral symp...

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Detalles Bibliográficos
Autores principales: Carlo, Fusco, Carlotta, Spagnoli, Grazia, Gabriella Salerno, Elena, Pavlidis, Daniele, Frattini, Francesco, Pisani, Maria, Teresa Bassi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502152/
https://www.ncbi.nlm.nih.gov/pubmed/30889162
http://dx.doi.org/10.23750/abm.v90i1.6951

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