Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/183409
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Campo DC | Valor | Lengua/Idioma |
---|---|---|
dc.contributor.author | Sevilla, Teresa | es_ES |
dc.contributor.author | Lupo, Vincenzo | es_ES |
dc.contributor.author | Sivera, Rafael | es_ES |
dc.contributor.author | Marco-Marín, Clara | es_ES |
dc.contributor.author | Martínez-Rubio, Dolores | es_ES |
dc.contributor.author | Rivas, Eloy | es_ES |
dc.contributor.author | Hernández, Arturo | es_ES |
dc.contributor.author | Palau Martínez, Francesc | es_ES |
dc.contributor.author | Espinós, Carmen | es_ES |
dc.date.accessioned | 2019-06-05T11:36:12Z | - |
dc.date.available | 2019-06-05T11:36:12Z | - |
dc.date.issued | 2011-12 | - |
dc.identifier.citation | Journal of the Peripheral Nervous System 16(4):347-52 (2011) | es_ES |
dc.identifier.issn | 1085-9489 | - |
dc.identifier.uri | http://hdl.handle.net/10261/183409 | - |
dc.description | 6 páginas, 1 figura, 2 tablas | es_ES |
dc.description.abstract | Congenital hypomyelinating neuropathy (CHN) is a severe inherited neuropathy with neonatal or early infancy onset, reduced nerve conduction velocity, and pathological evidence of hypomyelination. We describe a case of CHN that presented with neonatal hypotonia and a progressive downhill clinical course, developing cranial nerve dysfunction, and respiratory failure. The nerve conduction velocities were severely slowed and sural nerve biopsy revealed non-myelinated and poorly myelinated axons, with no typical onion bulbs. The mutational screening showed that our proband harbored a novel missense mutation, p.S121F, in the MPZ gene. In silico analyses and molecular modeling predicted that the replacement of a serine by a phenylalanine is a non-tolerated change and may affect the folding and the stability of the protein. Subcellular location studies were performed and revealed that the mutant protein loses its correct location on the cell membrane surface and is mainly expressed in the cytosol, reducing its adhesive properties. This case illustrates the clinical heterogeneity that exists in neuropathies associated with MPZ mutations and highlights that in patients with mild hypotonia in the first months that develop a very severe demyelinating neuropathy, the MPZ gene must be taken into account. | es_ES |
dc.description.sponsorship | This work was supported by the Instituto de Salud Carlos III (Grants number PI08/90857, PI08/0889, CP08/00053 and PS09/00095) co-funded with FEDER funds. C.E. has a “Miguel Servet” contract funded by the Instituto de Salud Carlos III. The CIBERNED and the CIBERER are initiatives of the Instituto de Salud Carlos III. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Wiley-Blackwell | es_ES |
dc.relation.isversionof | Postprint | es_ES |
dc.rights | openAccess | es_ES |
dc.subject | Congenital hypomyelinating neuropathy (CHN) | es_ES |
dc.subject | Déjérine-Sottas syndrome (DSS) | es_ES |
dc.subject | Charcot-Marie-Tooth (CMT) | es_ES |
dc.subject | MPZ gene | es_ES |
dc.subject | Nerve biopsy | es_ES |
dc.title | Congenital hypomyelinating neuropathy due to a novel MPZ mutation | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.1111/j.1529-8027.2011.00369.x | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | http://dx.doi.org/10.1111/j.1529-8027.2011.00369.x | es_ES |
dc.identifier.e-issn | 1529-8027 | - |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.identifier.funder | http://dx.doi.org/10.13039/501100004587 | es_ES |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairetype | artículo | - |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | With Fulltext | - |
item.languageiso639-1 | en | - |
Aparece en las colecciones: | (IBV) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
2011 J Peripher Nerv Syst 16-347 vers aut.pdf | 46,62 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
SCOPUSTM
Citations
11
checked on 19-abr-2024
WEB OF SCIENCETM
Citations
11
checked on 19-feb-2024
Page view(s)
281
checked on 23-abr-2024
Download(s)
266
checked on 23-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.