{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T15:49:18Z","timestamp":1748965758040},"reference-count":19,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,10,21]]},"DOI":"10.7759\/cureus.30550","type":"journal-article","created":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T15:01:46Z","timestamp":1666364506000},"source":"Crossref","is-referenced-by-count":2,"title":["Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy"],"prefix":"10.7759","author":[{"given":"Leema Reddy","family":"Peddareddygari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinsi","family":"Oberoi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raji P","family":"Grewal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.4.1013","article-title":"The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity","volume":"143","author":"Gregorio CC","year":"1998","unstructured":"Gregorio CC, Trombit\u00e1s K, Centner T, et al.. The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J Cell Biol. 1998, 143:1013-27. 10.1083\/jcb.143.4.1013","journal-title":"J Cell Biol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.36185\/2532-1900-043","article-title":"Genotype phenotype analysis in a family carrying truncating mutations in the titin gene","volume":"40","author":"Peddareddygari LR","year":"2021","unstructured":"Peddareddygari LR, Baisre-de Le\u00f3n A, Grewal RP. Genotype phenotype analysis in a family carrying truncating mutations in the titin gene. Acta Myol. 2021, 40:61-5. 10.36185\/2532-1900-043","journal-title":"Acta Myol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar P","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009, 4:1073-81. 10.1038\/nprot.2009.86","journal-title":"Nat Protoc"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei IA","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, et al.. A method and server for predicting damaging missense mutations. Nat Methods. 2010, 7:248-9. 10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz JM","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014, 11:361-2. 10.1038\/nmeth.2890","journal-title":"Nat Methods"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet FO","year":"2009","unstructured":"Desmet FO, Hamroun D, Lalande M, Collod-B\u00e9roud G, Claustres M, B\u00e9roud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009, 37:e67. 10.1093\/nar\/gkp215","journal-title":"Nucleic Acids Res"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.07.015","article-title":"Characterization and prediction of alternative splice sites","volume":"366","author":"Wang M","year":"2006","unstructured":"Wang M, Mar\u00edn A. Characterization and prediction of alternative splice sites. Gene. 2006, 366:219-27. 10.1016\/j.gene.2005.07.015","journal-title":"Gene"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21458","article-title":"Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6","volume":"32","author":"Raponi M","year":"2011","unstructured":"Raponi M, Kralovicova J, Copson E, et al.. Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. Hum Mutat. 2011, 32:436-44. 10.1002\/humu.21458","journal-title":"Hum Mutat"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24309","article-title":"Variant interpretation using population databases: lessons from gnomAD","volume":"43","author":"Gudmundsson S","year":"2022","unstructured":"Gudmundsson S, Singer-Berk M, Watts NA, et al.. Variant interpretation using population databases: lessons from gnomAD. Hum Mutat. 2022, 43:1012-30. 10.1002\/humu.24309","journal-title":"Hum Mutat"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0327-8","article-title":"A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A","volume":"13","author":"Park SY","year":"2012","unstructured":"Park SY, Kim SY, Hong YH, Cho SI, Seong MW, Park SS. A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. Neurogenetics. 2012, 13:275-80. 10.1007\/s10048-012-0327-8","journal-title":"Neurogenetics"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1177\/0883073817701622","article-title":"Clinical, molecular, and computational analysis in patients with a novel double mutation and a new synonymous variant in MeCP2: report of the first missense mutation within the AT-hook1 Cluster in Rett syndrome","volume":"32","author":"Kharrat M","year":"2017","unstructured":"Kharrat M, Kamoun Y, Kamoun F, et al.. Clinical, molecular, and computational analysis in patients with a novel double mutation and a new synonymous variant in MeCP2: report of the first missense mutation within the AT-hook1 Cluster in Rett syndrome. J Child Neurol. 2017, 32:694-703. 10.1177\/0883073817701622","journal-title":"J Child Neurol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2016.1187164","article-title":"Hb Dapu (HBA2: c.52G\u2009>\u2009T): a novel nondeletional \u03b1-Thalassemia mutation","volume":"40","author":"Yang Y","year":"2016","unstructured":"Yang Y, Li DZ, He P. Hb Dapu (HBA2: c.52G\u2009>\u2009T): a novel nondeletional \u03b1-Thalassemia mutation. Hemoglobin. 2016, 40:264-6. 10.1080\/03630269.2016.1187164","journal-title":"Hemoglobin"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0421-1","article-title":"Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy","volume":"16","author":"Ajroud-Driss S","year":"2015","unstructured":"Ajroud-Driss S, Fecto F, Ajroud K, et al.. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. 2015, 16:1-9. 10.1007\/s10048-014-0421-1","journal-title":"Neurogenetics"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(02)01226-6","article-title":"The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy","volume":"111","author":"Kn\u00f6ll R","year":"2002","unstructured":"Kn\u00f6ll R, Hoshijima M, Hoffman HM, et al.. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002, 111:943-55. 10.1016\/s0092-8674(02)01226-6","journal-title":"Cell"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.03.001","article-title":"Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis","volume":"351","author":"Dabby R","year":"2015","unstructured":"Dabby R, Sadeh M, Hilton-Jones D, et al.. Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis. J Neurol Sci. 2015, 351:120-3. 10.1016\/j.jns.2015.03.001","journal-title":"J Neurol Sci"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-015-9439-0","article-title":"Identification of a novel mutation in the Titin gene in a Chinese family with limb-girdle muscular dystrophy 2J","volume":"53","author":"Zheng W","year":"2016","unstructured":"Zheng W, Chen H, Deng X, et al.. Identification of a novel mutation in the Titin gene in a Chinese family with limb-girdle muscular dystrophy 2J. Mol Neurobiol. 2016, 53:5097-102. 10.1007\/s12035-015-9439-0","journal-title":"Mol Neurobiol"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002200","article-title":"A new titinopathy: childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy","volume":"85","author":"De Cid R","year":"2015","unstructured":"De Cid R, Ben Yaou R, Roudaut C, et al.. A new titinopathy: childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. Neurology. 2015, 85:2126-35. 10.1212\/WNL.0000000000002200","journal-title":"Neurology"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmr.2012.06.009","article-title":"Prevention and management of limb contractures in neuromuscular diseases","volume":"23","author":"Skalsky AJ","year":"2012","unstructured":"Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012, 23:675-87. 10.1016\/j.pmr.2012.06.009","journal-title":"Phys Med Rehabil Clin N Am"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/115539-novel-titin-gene-mutation-causing-autosomal-dominant-limb-girdle-muscular-dystrophy","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:52:11Z","timestamp":1707508331000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/115539-novel-titin-gene-mutation-causing-autosomal-dominant-limb-girdle-muscular-dystrophy"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,21]]},"references-count":19,"URL":"https:\/\/doi.org\/10.7759\/cureus.30550","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2022,10,21]]}}}