Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

BACKGROUND: A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the suspicion of adult polyglucosan bodies disease (OMIM 263570). METHODS...

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Detalles Bibliográficos
Autores principales: Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J., Ghika, Joseph, Baumgartner, Matthias R., Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562026/
https://www.ncbi.nlm.nih.gov/pubmed/31211171
http://dx.doi.org/10.1002/acn3.791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562026/
https://www.ncbi.nlm.nih.gov/pubmed/31211171
http://dx.doi.org/10.1002/acn3.791

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