The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. Molecular diagnostics of CMT1A/HNPP diseases confirm clinical diagnosis, but their value is limited to the clinical course and...

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Detalles Bibliográficos
Autores principales: Sinkiewicz-Darol, Elena, Lacerda, Andressa Ferreira, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Sokołowska, Beata, Kabzińska, Dagmara, Brunetti, Craig R., Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284369/
https://www.ncbi.nlm.nih.gov/pubmed/25342198
http://dx.doi.org/10.1007/s10048-014-0426-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284369/
https://www.ncbi.nlm.nih.gov/pubmed/25342198
http://dx.doi.org/10.1007/s10048-014-0426-9

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