Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

BACKGROUND: Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment. However, in a diagnostic laboratory setting relying on external test requisiti...

Descripción completa

Detalles Bibliográficos
Autores principales: Østern, Rune, Fagerheim, Toril, Hjellnes, Helene, Nygård, Bjørn, Mellgren, Svein I, Nilssen, Øivind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849068/
https://www.ncbi.nlm.nih.gov/pubmed/24053775
http://dx.doi.org/10.1186/1471-2350-14-94

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849068/
https://www.ncbi.nlm.nih.gov/pubmed/24053775
http://dx.doi.org/10.1186/1471-2350-14-94

Ejemplares similares