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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Bibliografiske detaljer
Udgivet i:Acta Biomed
Main Authors: Carlo, Fusco, Carlotta, Spagnoli, Grazia, Gabriella Salerno, Elena, Pavlidis, Daniele, Frattini, Francesco, Pisani, Maria, Teresa Bassi
Format: Artigo
Sprog:Inglês
Udgivet: Mattioli 1885 2019
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6502152/
https://ncbi.nlm.nih.gov/pubmed/30889162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.23750/abm.v90i1.6951
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