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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539360/
https://www.ncbi.nlm.nih.gov/pubmed/26032230
http://dx.doi.org/10.1007/s00415-015-7778-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539360/
https://www.ncbi.nlm.nih.gov/pubmed/26032230
http://dx.doi.org/10.1007/s00415-015-7778-4

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