Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

Charcot–Marie–Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary axonal damage. The underlying pathology involves axonal degeneration wh...

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Detalhes bibliográficos
Publicado no:J Neurol
Main Authors: Bansagi, Boglarka, Antoniadi, Thalia, Burton-Jones, Sarah, Murphy, Sinead M., McHugh, John, Alexander, Michael, Wells, Richard, Davies, Joanna, Hilton-Jones, David, Lochmüller, Hanns, Chinnery, Patrick, Horvath, Rita
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Original Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539360/
https://ncbi.nlm.nih.gov/pubmed/26032230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-015-7778-4
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