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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...
Autores principales: | Carlo, Fusco, Carlotta, Spagnoli, Grazia, Gabriella Salerno, Elena, Pavlidis, Daniele, Frattini, Francesco, Pisani, Maria, Teresa Bassi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mattioli 1885
2019
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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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