{"id":"https://openalex.org/W2890397294","doi":"https://doi.org/10.1186/s12883-018-1159-4","title":"Mutation m.15923A>G in the MT-TT gene causes mild myopathy \u2013 case report of an adult-onset phenotype","display_name":"Mutation m.15923A>G in the MT-TT gene causes mild myopathy \u2013 case report of an adult-onset phenotype","publication_year":2018,"publication_date":"2018-09-20","ids":{"openalex":"https://openalex.org/W2890397294","doi":"https://doi.org/10.1186/s12883-018-1159-4","mag":"2890397294","pmid":"https://pubmed.ncbi.nlm.nih.gov/30236074","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6147040"},"language":"en","primary_location":{"id":"doi:10.1186/s12883-018-1159-4","doi":"https://doi.org/10.1186/s12883-018-1159-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12883-018-1159-4","pdf_url":"https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-018-1159-4","source":{"id":"https://openalex.org/S120289491","display_name":"BMC Neurology","issn_l":"1471-2377","issn":["1471-2377"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-018-1159-4","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054635406","display_name":"Mikko K\u00e4rpp\u00e4","orcid":"https://orcid.org/0009-0003-9193-5492","observed_orcids":["https://orcid.org/0009-0003-9193-5492"]},"institutions":[{"id":"https://openalex.org/I2799272722","display_name":"Oulu University Hospital","ror":"https://ror.org/045ney286","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2799272722"]},{"id":"https://openalex.org/I98381234","display_name":"University of Oulu","ror":"https://ror.org/03yj89h83","country_code":"FI","type":"education","lineage":["https://openalex.org/I98381234"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Mikko K\u00e4rpp\u00e4","raw_affiliation_strings":["Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland","Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland","Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland","institution_ids":["https://openalex.org/I2799272722"]},{"raw_affiliation_string":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland","institution_ids":["https://openalex.org/I2799272722","https://openalex.org/I98381234"]},{"raw_affiliation_string":"Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland","institution_ids":["https://openalex.org/I98381234"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039512469","display_name":"Laura Kyt\u00f6vuori","orcid":"https://orcid.org/0000-0003-2790-5646","observed_orcids":["https://orcid.org/0000-0003-2790-5646"]},"institutions":[{"id":"https://openalex.org/I2799272722","display_name":"Oulu University Hospital","ror":"https://ror.org/045ney286","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2799272722"]},{"id":"https://openalex.org/I98381234","display_name":"University of Oulu","ror":"https://ror.org/03yj89h83","country_code":"FI","type":"education","lineage":["https://openalex.org/I98381234"]}],"countries":["FI"],"is_corresponding":true,"raw_author_name":"Laura Kyt\u00f6vuori","raw_affiliation_strings":["Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland. laura.kytovuori@oulu.fi","Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland. laura.kytovuori@oulu.fi","Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. laura.kytovuori@oulu.fi","Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland"],"raw_orcid":"https://orcid.org/0000-0003-2790-5646","affiliations":[{"raw_affiliation_string":"Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland. laura.kytovuori@oulu.fi","institution_ids":["https://openalex.org/I2799272722"]},{"raw_affiliation_string":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland. laura.kytovuori@oulu.fi","institution_ids":["https://openalex.org/I2799272722","https://openalex.org/I98381234"]},{"raw_affiliation_string":"Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland. laura.kytovuori@oulu.fi","institution_ids":["https://openalex.org/I98381234"]},{"raw_affiliation_string":"Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland","institution_ids":["https://openalex.org/I98381234"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013219344","display_name":"Markku A. Saari","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I155660961","display_name":"University of Turku","ror":"https://ror.org/05vghhr25","country_code":"FI","type":"education","lineage":["https://openalex.org/I155660961"]},{"id":"https://openalex.org/I4210140120","display_name":"Turku Centre for Biotechnology","ror":"https://ror.org/0421ba211","country_code":"FI","type":"facility","lineage":["https://openalex.org/I4210140120"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Markku Saari","raw_affiliation_strings":["Turku Centre for Biotechnology, Cell Imaging Core, University of Turku, FI-20520, Turku, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Turku Centre for Biotechnology, Cell Imaging Core, University of Turku, FI-20520, Turku, Finland","institution_ids":["https://openalex.org/I155660961","https://openalex.org/I4210140120"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5068279800","display_name":"Kari Majamaa","orcid":"https://orcid.org/0000-0002-9070-3791","observed_orcids":["https://orcid.org/0000-0002-9070-3791"]},"institutions":[{"id":"https://openalex.org/I2799272722","display_name":"Oulu University Hospital","ror":"https://ror.org/045ney286","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2799272722"]},{"id":"https://openalex.org/I98381234","display_name":"University of Oulu","ror":"https://ror.org/03yj89h83","country_code":"FI","type":"education","lineage":["https://openalex.org/I98381234"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Kari Majamaa","raw_affiliation_strings":["Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland","Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland","Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 OYS, Oulu, Finland","institution_ids":["https://openalex.org/I2799272722"]},{"raw_affiliation_string":"Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland","institution_ids":["https://openalex.org/I2799272722","https://openalex.org/I98381234"]},{"raw_affiliation_string":"Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland","institution_ids":["https://openalex.org/I98381234"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5039512469"],"corresponding_institution_ids":["https://openalex.org/I2799272722","https://openalex.org/I98381234"],"apc_list":{"value":3090,"currency":"USD","value_usd":3090},"apc_paid":{"value":3090,"currency":"USD","value_usd":3090},"fwci":0.2341,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.44889089,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"18","issue":"1","first_page":"149","last_page":"149"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9883000254631042,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9883000254631042,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.002099999925121665,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0020000000949949026,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mitochondrial-myopathy","display_name":"mitochondrial myopathy","score":0.7020000219345093},{"id":"https://openalex.org/keywords/heteroplasmy","display_name":"heteroplasmy","score":0.796999990940094},{"id":"https://openalex.org/keywords/ragged-red-fibers","display_name":"ragged-red fibers","score":0.7400000095367432},{"id":"https://openalex.org/keywords/cytochrome-c-oxidase-deficiency","display_name":"cytochrome c oxidase deficiency","score":0.8640000224113464},{"id":"https://openalex.org/keywords/merrf","display_name":"MERRF","score":0.6899999976158142},{"id":"https://openalex.org/keywords/exercise-intolerance","display_name":"exercise intolerance","score":0.6330000162124634},{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.6549999713897705}],"concepts":[{"id":"https://openalex.org/C181561989","wikidata":"https://www.wikidata.org/wiki/Q2581905","display_name":"Heteroplasmy","level":4,"score":0.8909494876861572},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6469489336013794},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.6253716945648193},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5434587001800537},{"id":"https://openalex.org/C2775859823","wikidata":"https://www.wikidata.org/wiki/Q11883686","display_name":"Myoclonic epilepsy","level":3,"score":0.5326561331748962},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4870169758796692},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.4638322591781616},{"id":"https://openalex.org/C2775833069","wikidata":"https://www.wikidata.org/wiki/Q6881881","display_name":"Mitochondrial myopathy","level":4,"score":0.45399507880210876},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4536447525024414},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4532826542854309},{"id":"https://openalex.org/C167871757","wikidata":"https://www.wikidata.org/wiki/Q4982391","display_name":"Buccal swab","level":2,"score":0.42606014013290405},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.42506280541419983},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4127354025840759},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31418493390083313},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.23578324913978577},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19197392463684082},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012343","descriptor_name":"RNA, Transfer","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013912","descriptor_name":"Threonine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1186/s12883-018-1159-4","doi":"https://doi.org/10.1186/s12883-018-1159-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12883-018-1159-4","pdf_url":"https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-018-1159-4","source":{"id":"https://openalex.org/S120289491","display_name":"BMC Neurology","issn_l":"1471-2377","issn":["1471-2377"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Neurology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5098311","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6147040","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:30236074","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30236074","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC neurology","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:6147040","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6147040/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Neurol","raw_type":"Text"},{"id":"pmh:oai:utupub.fi:11111/29551","doi":null,"is_oa":true,"landing_page_url":"https://www.utupub.fi/items/e65cb5fb-6ff0-4466-ae48-be17a0550fe1","pdf_url":"https://www.utupub.fi/bitstreams/6068496a-f550-4753-99b1-46ec74cdbca0/download","source":{"id":"https://openalex.org/S4306402470","display_name":"UTUPub (University of Turku)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155660961","host_organization_name":"University of Turku","host_organization_lineage":["https://openalex.org/I155660961"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.utupub.fi/handle/10024/155035","raw_type":null},{"id":"pmh:oai:www.utupub.fi:10024/155035","doi":null,"is_oa":true,"landing_page_url":"https://www.utupub.fi/handle/10024/155035","pdf_url":"https://www.utupub.fi/bitstream/10024/155035/1/Mutation%20m.15923AG%20in%20the%20MT-TT%20gene.pdf","source":{"id":"https://openalex.org/S4306402470","display_name":"UTUPub (University of Turku)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155660961","host_organization_name":"University of Turku","host_organization_lineage":["https://openalex.org/I155660961"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},{"id":"pmh:oai:doaj.org/article:1cbec44a9ed74328ba1a1ecc943c5ab9","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1cbec44a9ed74328ba1a1ecc943c5ab9","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Neurology, Vol 18, Iss 1, Pp 1-5 (2018)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12883-018-1159-4","doi":"https://doi.org/10.1186/s12883-018-1159-4","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12883-018-1159-4","pdf_url":"https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-018-1159-4","source":{"id":"https://openalex.org/S120289491","display_name":"BMC Neurology","issn_l":"1471-2377","issn":["1471-2377"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4303882338","display_name":"Medical Research Center, Hamad Medical Corporation","ror":null},{"id":"https://openalex.org/F4320323313","display_name":"Turun Yliopisto","ror":"https://ror.org/05vghhr25"},{"id":"https://openalex.org/F4320323692","display_name":"Oulun Yliopisto","ror":"https://ror.org/03yj89h83"},{"id":"https://openalex.org/F4320324828","display_name":"\u00c5bo Akademi","ror":null},{"id":"https://openalex.org/F4320328139","display_name":"Biocenter Finland","ror":"https://ror.org/03aay6c48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2890397294.pdf","grobid_xml":"https://content.openalex.org/works/W2890397294.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W1521947818","https://openalex.org/W1567088072","https://openalex.org/W1964630690","https://openalex.org/W2001545074","https://openalex.org/W2003574027","https://openalex.org/W2017347785","https://openalex.org/W2024530489","https://openalex.org/W2041285746","https://openalex.org/W2053061653","https://openalex.org/W2076526256","https://openalex.org/W2100704541","https://openalex.org/W2127322768","https://openalex.org/W2587512014","https://openalex.org/W2800395628","https://openalex.org/W2803839476","https://openalex.org/W3215014706"],"related_works":["https://openalex.org/W2765794475","https://openalex.org/W1025944755","https://openalex.org/W2021491024","https://openalex.org/W3167168203","https://openalex.org/W2158965056","https://openalex.org/W7097775583","https://openalex.org/W2039257938","https://openalex.org/W230771594","https://openalex.org/W2519995791","https://openalex.org/W2067270473"],"abstract_inverted_index":{"BACKGROUND:":[0],"Only":[1],"five":[2],"patients":[3,35],"have":[4,58],"previously":[5],"been":[6,25],"reported":[7],"to":[8],"harbor":[9],"mutations":[10,222],"in":[11,27,54,63,87,113,119,127,148,223],"the":[12,61,114,128,145,156,171,183,200,207,210,215,218],"MT-TT":[13],"gene":[14],"encoding":[15],"mitochondrial":[16],"tRNA":[17],"threonine.":[18],"The":[19,72,105,123],"m.15923A":[20,106,185,201],">":[21,107,162,186,202],"G":[22,108,163,187,203],"mutation":[23,62,109,124,184,204],"has":[24],"found":[26,60],"three":[28,173],"severely":[29],"affected":[30],"children.":[31],"One":[32],"of":[33,46,142,199,209,217],"these":[34],"died":[36],"within":[37],"days":[38],"after":[39],"birth":[40],"and":[41,84,101,117,134,164,177],"two":[42],"had":[43,137],"a":[44,75,138,166,189],"phenotype":[45,169],"myoclonic":[47],"epilepsy":[48],"with":[49,67,159,165,206],"ragged":[50,102],"red":[51,103],"fibers":[52],"(MERRF)":[53],"early":[55],"childhood.":[56],"We":[57,154],"now":[59],"an":[64],"adult":[65],"patient":[66,73,158],"mild":[68],"myopathy.":[69],"CASE":[70],"PRESENTATION:":[71],"is":[74,188],"64-year-old":[76],"Finnish":[77],"man,":[78],"who":[79],"developed":[80],"bilateral":[81],"ptosis,":[82],"diplopia":[83],"exercise":[85],"intolerance":[86],"his":[88],"fifties.":[89],"Family":[90],"history":[91],"was":[92,111,125,132,151],"unremarkable.":[93],"Muscle":[94],"histology":[95],"showed":[96],"cytochrome":[97],"c-oxidase":[98],"(COX)":[99],"negative":[100],"fibres.":[104],"heteroplasmy":[110,141,198],"33%":[112],"skeletal":[115],"muscle":[116],"2%":[118],"buccal":[120],"epithelial":[121],"cells.":[122],"undetectable":[126],"blood.":[129],"Single-fibre":[130],"analysis":[131],"performed":[133],"COX-negative":[135],"fibres":[136,147],"substantially":[139],"higher":[140],"92%,":[143],"than":[144,170],"normal":[146],"which":[149],"it":[150],"43%.":[152],"CONCLUSIONS:":[153],"report":[155],"fourth":[157],"m.":[160],"15923A":[161],"remarkably":[167],"milder":[168],"previous":[172],"patients.":[174],"Our":[175,193],"findings":[176],"recent":[178],"biochemical":[179],"studies":[180],"suggest":[181,196],"that":[182,197],"definite":[190],"disease-causing":[191],"mutation.":[192],"results":[194],"also":[195],"correlates":[205],"severity":[208],"phenotype.":[211],"This":[212],"study":[213],"expands":[214],"catalog":[216],"phenotypes":[219],"caused":[220],"by":[221],"mtDNA.":[224]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2018-09-27T00:00:00"}