CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtype...

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Pubblicato in:J Neurol Neurosurg Psychiatry
Autori principali: Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2015
Soggetti:
Neurogenetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4516002/
https://ncbi.nlm.nih.gov/pubmed/25430934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2014-308826
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