WFRF:(Rojas Garcia Ricardo)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04483naa a2200853 4500 | |
| 001 | oai:DiVA.org:uu-431269 | |
| 003 | SwePub | |
| 008 | 210113s2020 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4312692 URI |
| 024 | 7 | a https://doi.org/10.1038/s41436-020-0914-22 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Savarese, Marco4 aut |
| 245 | 1 0 | a Genotype-phenotype correlations in recessive titinopathies. |
| 264 | 1 | b Elsevier BV,c 2020 |
| 338 | a print2 rdacarrier | |
| 520 | a PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort.METHODS: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families).RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng |
| 653 | a arthrogryposis | |
| 653 | a cardiomyopathy | |
| 653 | a congenital myopathy | |
| 653 | a skeletal muscle disorders | |
| 653 | a titin | |
| 653 | a Patologi | |
| 653 | a Pathology | |
| 700 | 1 | a Vihola, Anna4 aut |
| 700 | 1 | a Oates, Emily C4 aut |
| 700 | 1 | a Barresi, Rita4 aut |
| 700 | 1 | a Fiorillo, Chiara4 aut |
| 700 | 1 | a Tasca, Giorgio4 aut |
| 700 | 1 | a Jokela, Manu4 aut |
| 700 | 1 | a Sarkozy, Anna4 aut |
| 700 | 1 | a Luo, Sushan4 aut |
| 700 | 1 | a Díaz-Manera, Jordi4 aut |
| 700 | 1 | a Ehrstedt, Christofferu Uppsala universitet,Barnneurologi/Barnonkologi4 aut0 (Swepub:uu)chreh851 |
| 700 | 1 | a Rojas-García, Ricardo4 aut |
| 700 | 1 | a Sáenz, Amets4 aut |
| 700 | 1 | a Muelas, Nuria4 aut |
| 700 | 1 | a Lonardo, Fortunato4 aut |
| 700 | 1 | a Fodstad, Heidi4 aut |
| 700 | 1 | a Qureshi, Talha4 aut |
| 700 | 1 | a Johari, Mridul4 aut |
| 700 | 1 | a Välipakka, Salla4 aut |
| 700 | 1 | a Luque, Helena4 aut |
| 700 | 1 | a Petiot, Philippe4 aut |
| 700 | 1 | a de Munain, Adolfo López4 aut |
| 700 | 1 | a Pane, Marika4 aut |
| 700 | 1 | a Mercuri, Eugenio4 aut |
| 700 | 1 | a Torella, Annalaura4 aut |
| 700 | 1 | a Nigro, Vincenzo4 aut |
| 700 | 1 | a Astrea, Guja4 aut |
| 700 | 1 | a Santorelli, Filippo Maria4 aut |
| 700 | 1 | a Bruno, Claudio4 aut |
| 700 | 1 | a Kuntzer, Thierry4 aut |
| 700 | 1 | a Illa, Isabel4 aut |
| 700 | 1 | a Vílchez, Juan J4 aut |
| 700 | 1 | a Julien, Cedric4 aut |
| 700 | 1 | a Ferreiro, Ana4 aut |
| 700 | 1 | a Malandrini, Alessandro4 aut |
| 700 | 1 | a Zhao, Chong-Bo4 aut |
| 700 | 1 | a Casar Borota, Oliverau Uppsala universitet,Klinisk och experimentell patologi4 aut0 (Swepub:uu)olica753 |
| 700 | 1 | a Davis, Mark4 aut |
| 700 | 1 | a Muntoni, Francesco4 aut |
| 700 | 1 | a Hackman, Peter4 aut |
| 700 | 1 | a Udd, Bjarne4 aut |
| 710 | 2 | a Uppsala universitetb Barnneurologi/Barnonkologi4 org |
| 773 | 0 | t Genetics in Medicined : Elsevier BVg 22:12, s. 2029-2040q 22:12<2029-2040x 1098-3600x 1530-0366 |
| 856 | 4 | u https://www.nature.com/articles/s41436-020-0914-2.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-431269 |
| 856 | 4 8 | u https://doi.org/10.1038/s41436-020-0914-2 |
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