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Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three m...

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Detalles Bibliográficos
Autores principales:	Palaima, Paulius, Chamova, Teodora, Jander, Sebastian, Mitev, Vanyo, Van Broeckhoven, Christine, Tournev, Ivailo, Peeters, Kristien, Jordanova, Albena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692960/ https://www.ncbi.nlm.nih.gov/pubmed/31412900 http://dx.doi.org/10.1186/s13023-019-1162-x

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