{"doi":"10.1016/j.bbabio.2008.10.001","title":"Identification of novel mutations in five patients with mitochondrial encephalomyopathy","abstract":null,"journal":"Biochimica et Biophysica Acta (BBA) - Bioenergetics","year":2009,"id":616967,"datarank":6.006305467457906,"base_score":4.634728988229636,"endowment":4.634728988229636,"self_citation_contribution":0.6952093482344455,"citation_network_contribution":5.3110961192234605,"self_endowment_contribution":0.6952093482344455,"citer_contribution":5.3110961192234605,"corpus_percentile":null,"corpus_rank":null,"citation_count":102,"citer_count":96,"citers_with_citation_signal":83,"citers_with_endowment":83,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1590841,"name":"Daniela Piga","orcid":null,"position":1,"is_corresponding":false},{"id":350234,"name":"Eleonora Lamantea","orcid":"0000-0001-5090-6028","position":2,"is_corresponding":false},{"id":1590846,"name":"Franco Carrara","orcid":null,"position":3,"is_corresponding":false},{"id":57128,"name":"Graziella Uziel","orcid":null,"position":4,"is_corresponding":false},{"id":1590849,"name":"Paola Cudia","orcid":null,"position":5,"is_corresponding":false},{"id":1590852,"name":"Anna Zani","orcid":null,"position":6,"is_corresponding":false},{"id":992623,"name":"Laura Farina","orcid":"0000-0002-1571-8037","position":7,"is_corresponding":false},{"id":1590856,"name":"Lucia Morandi","orcid":null,"position":8,"is_corresponding":false},{"id":520495,"name":"Marina Mora","orcid":"0000-0002-5765-2320","position":9,"is_corresponding":false},{"id":350678,"name":"Antonella Spinazzola","orcid":"0000-0003-4242-8091","position":10,"is_corresponding":false},{"id":256271,"name":"Massimo Zeviani","orcid":"0000-0002-9067-5508","position":11,"is_corresponding":false},{"id":1590864,"name":"Valeria Tiranti","orcid":null,"position":12,"is_corresponding":false},{"id":1590838,"name":"Lucia Valente","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Identification of novel mutations in five patients with mitochondrial encephalomyopathy","abstract":"MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNA(Trp) and tRNA(Phe), respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders.","is_dataset_classified":null,"base_score":4.634728988229636,"endowment":4.634728988229636,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"18977334","pmcid":null,"openalex_id":"https://openalex.org/W2101247884","authors":[],"funders":[{"funder_name":"Telethon","grant_id":"GGP07019","title":null}],"total_grants":1,"fwci":2.2116,"citation_percentile":0.87738219,"influential_citations":0,"citation_trend":[{"year":2012,"count":11},{"year":2013,"count":6},{"year":2014,"count":7},{"year":2015,"count":1},{"year":2016,"count":7},{"year":2017,"count":3},{"year":2018,"count":5},{"year":2019,"count":7},{"year":2020,"count":7},{"year":2021,"count":10},{"year":2022,"count":2},{"year":2023,"count":5},{"year":2024,"count":5},{"year":2025,"count":3},{"year":2026,"count":4}],"oa_status":"bronze","license":"https://www.elsevier.com/open-access/userlicense/1.0/","oa_locations":[{"url":"https://www.sciencedirect.com/science/article/pii/S0005272808006919/pdf","host_type":"journal"},{"url":"https://www.sciencedirect.com/science/article/pii/S0005272808006919/pdf","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0005272808006919?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0005272808006919?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.bbabio.2008.10.001","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/18977334","host_type":"repository"},{"url":"http://discovery.ucl.ac.uk/1546419/","host_type":"repository"},{"url":"http://hdl.handle.net/11577/3354305","host_type":"repository"}],"fields_of_study":["Mitochondrial Function and Pathology","ATP Synthase and ATPases Research","Metabolism and Genetic Disorders","Adult","Brain","Child","DNA","DNA Primers","DNA, Mitochondrial","Electron Transport Complex IV","Humans","Magnetic Resonance Imaging","Mitochondria, Muscle","Mitochondrial Encephalomyopathies","Muscle, Skeletal","Mutation","NADH Dehydrogenase","Polymerase Chain Reaction","Polymorphism, Restriction Fragment Length","Succinate Dehydrogenase"],"mesh_terms":["Adult","Brain","Child","Electron Transport Complex IV","DNA","DNA, Mitochondrial","Humans","Magnetic Resonance Imaging","Mitochondria, Muscle","Mutation","NADH Dehydrogenase","Polymorphism, Restriction Fragment Length","Succinate Dehydrogenase","Polymerase Chain Reaction","Mitochondrial Encephalomyopathies","DNA Primers","Muscle, Skeletal"],"keywords":["Heteroplasmy","Mitochondrial DNA","Mitochondrial encephalomyopathy","Mitochondrial disease","Genetics","Biology","Point mutation","Mutation","Transfer RNA","Gene","Mitochondrial myopathy","Chronic progressive external ophthalmoplegia","Mitochondrial Encephalomyopathies","Human mitochondrial genetics","RNA"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T00:30:18.848520Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}