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Author | dc.contributor.author | Castiglioni, Claudia | |
Author | dc.contributor.author | Fattori, Fabiana | |
Author | dc.contributor.author | Udd, Bjarne | |
Author | dc.contributor.author | De Los Angeles Avaria, Maria | |
Author | dc.contributor.author | Suarez, Bernardita | |
Author | dc.contributor.author | D'Amico, Adele | |
Author | dc.contributor.author | Malandrini, Alessandro | |
Author | dc.contributor.author | Carrozzo, Rosalba | |
Author | dc.contributor.author | Verrigni, Daniela | |
Author | dc.contributor.author | Bertini, Enrico | |
Author | dc.contributor.author | Tasca, Giorgio | |
Admission date | dc.date.accessioned | 2019-03-18T12:01:07Z | |
Available date | dc.date.available | 2019-03-18T12:01:07Z | |
Publication date | dc.date.issued | 2018 | |
Cita de ítem | dc.identifier.citation | European Journal of Human Genetics, Volumen 26, Issue 3, 2018, Pages 367-373 | |
Identifier | dc.identifier.issn | 14765438 | |
Identifier | dc.identifier.issn | 10184813 | |
Identifier | dc.identifier.other | 10.1038/s41431-017-0003-4 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/167334 | |
Abstract | dc.description.abstract | © 2018 European Society of Human Genetics.We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed consistent features across patients, with a peculiar concentric disto-proximal gradient of fatty replacement. We used targeted next generation sequencing and candidate gene approach to study these families. Compound biallelic heterozygous variants, p.[(Pro648Arg)]; [(His932Tyr)] and p.[(Thr251Ile),(Pro587Leu)]; [(Arg943Cys)], were found in the three patients causing this homogeneous phenotype. Our report on a subset of unrelated patients, that showed a distinct autosomal recessive childhood-onset neuromyopathy with congenital cataracts and g | |
Lenguage | dc.language.iso | en | |
Publisher | dc.publisher | Nature Publishing Group | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | European Journal of Human Genetics | |
Keywords | dc.subject | Genetics | |
Keywords | dc.subject | Genetics (clinical) | |
Título | dc.title | Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants /692/308 /692/699 article | |
Document type | dc.type | Artículo de revista | |
dcterms.accessRights | dcterms.accessRights | Acceso Abierto | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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