{"id":"https://openalex.org/W2073619571","doi":"https://doi.org/10.1007/bf01799605","title":"Diseases resulting from mitochondrial DNA point mutations","display_name":"Diseases resulting from mitochondrial DNA point mutations","publication_year":1992,"publication_date":"1992-07-01","ids":{"openalex":"https://openalex.org/W2073619571","doi":"https://doi.org/10.1007/bf01799605","mag":"2073619571","pmid":"https://pubmed.ncbi.nlm.nih.gov/1528007"},"language":"en","primary_location":{"id":"doi:10.1007/bf01799605","doi":"https://doi.org/10.1007/bf01799605","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf01799605","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5085274471","display_name":"Douglas C. Wallace","orcid":"https://orcid.org/0000-0002-7480-8278","observed_orcids":["https://orcid.org/0000-0002-7480-8278"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. C. Wallace","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","Department of Neurology, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","institution_ids":["https://openalex.org/I150468666"]},{"raw_affiliation_string":"Department of Neurology, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032518195","display_name":"Marie T. Lott","orcid":"https://orcid.org/0000-0003-2035-479X","observed_orcids":["https://orcid.org/0000-0003-2035-479X"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. T. Lott","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035073907","display_name":"John M. Shoffner","orcid":"https://orcid.org/0000-0002-2820-6807","observed_orcids":["https://orcid.org/0000-0002-2820-6807"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. M. Shoffner","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","Department of Neurology, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","institution_ids":["https://openalex.org/I150468666"]},{"raw_affiliation_string":"Department of Neurology, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","institution_ids":["https://openalex.org/I150468666"]}]},{"author_position":"last","author":{"id":null,"display_name":"M. D. Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. D. Brown","raw_affiliation_strings":["Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322 USA","institution_ids":["https://openalex.org/I150468666"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I150468666"],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":0.3746,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.45217391,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"15","issue":"4","first_page":"472","last_page":"479"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9984999895095825,"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":0.9984999895095825,"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":0.0003000000142492354,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.9169999957084656},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.8059999942779541},{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.9210000038146973},{"id":"https://openalex.org/keywords/mitochondrial-trna-mutations","display_name":"mitochondrial tRNA mutations","score":0.6439999938011169},{"id":"https://openalex.org/keywords/merrf","display_name":"MERRF","score":0.8299999833106995},{"id":"https://openalex.org/keywords/mitochondrial-myopathy","display_name":"mitochondrial myopathy","score":0.5849999785423279},{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.6840000152587891},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9039999842643738},{"id":"https://openalex.org/keywords/neurogenic-atrophy","display_name":"neurogenic atrophy","score":0.5759999752044678},{"id":"https://openalex.org/keywords/mitochondrial-electron-transport-chain","display_name":"mitochondrial electron transport chain","score":0.4620000123977661},{"id":"https://openalex.org/keywords/atpase-6","display_name":"ATPase 6","score":0.7350000143051147},{"id":"https://openalex.org/keywords/oxidative-phosphorylation-deficiency","display_name":"oxidative phosphorylation deficiency","score":0.7559999823570251},{"id":"https://openalex.org/keywords/alzheimer-s-disease","display_name":"Alzheimer's disease","score":0.8600000143051147},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.9710000157356262}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7768984436988831},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.6884516477584839},{"id":"https://openalex.org/C2779799828","wikidata":"https://www.wikidata.org/wiki/Q6881866","display_name":"Mitochondrial encephalomyopathy","level":4,"score":0.6748853325843811},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6486093401908875},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6344070434570312},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.6028589606285095},{"id":"https://openalex.org/C2775833069","wikidata":"https://www.wikidata.org/wiki/Q6881881","display_name":"Mitochondrial myopathy","level":4,"score":0.585889458656311},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.559653639793396},{"id":"https://openalex.org/C2780317664","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Lactic acidosis","level":2,"score":0.491764098405838},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.4610345661640167},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4297771155834198},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.4289737939834595},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3769567906856537},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.11822441220283508}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","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":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010085","descriptor_name":"Oxidative Phosphorylation","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":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1007/bf01799605","doi":"https://doi.org/10.1007/bf01799605","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf01799605","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:1528007","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1528007","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":"Journal of inherited metabolic disease","raw_type":"Journal Article"},{"id":"mag:2740871165","doi":null,"is_oa":false,"landing_page_url":"http://rd.springer.com/content/pdf/10.1007%2FBF01799605.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W62962787","https://openalex.org/W1487553556","https://openalex.org/W1499722891","https://openalex.org/W1538214352","https://openalex.org/W1790985176","https://openalex.org/W1925814110","https://openalex.org/W1966461639","https://openalex.org/W1968192113","https://openalex.org/W1968952472","https://openalex.org/W1969614116","https://openalex.org/W1970693337","https://openalex.org/W1971104692","https://openalex.org/W1988731658","https://openalex.org/W1992307061","https://openalex.org/W2004437670","https://openalex.org/W2009128700","https://openalex.org/W2017347785","https://openalex.org/W2026674234","https://openalex.org/W2045409504","https://openalex.org/W2053061653","https://openalex.org/W2055308573","https://openalex.org/W2056070815","https://openalex.org/W2059718548","https://openalex.org/W2061574765","https://openalex.org/W2062251719","https://openalex.org/W2063575568","https://openalex.org/W2079640584","https://openalex.org/W2080904974","https://openalex.org/W2089870793","https://openalex.org/W2092895723","https://openalex.org/W2094232655","https://openalex.org/W2095725813","https://openalex.org/W2096303700","https://openalex.org/W2104018711","https://openalex.org/W2105532685","https://openalex.org/W2109291482","https://openalex.org/W2112637971","https://openalex.org/W2115765138","https://openalex.org/W2136372119","https://openalex.org/W2159479663","https://openalex.org/W4234100793","https://openalex.org/W4253946794"],"related_works":["https://openalex.org/W2740871165","https://openalex.org/W2167781385","https://openalex.org/W2031136564","https://openalex.org/W1979516784","https://openalex.org/W2484313277","https://openalex.org/W977269239","https://openalex.org/W1978426832","https://openalex.org/W2414273524","https://openalex.org/W4284990864","https://openalex.org/W1497179990"],"abstract_inverted_index":{"A":[0],"number":[1],"of":[2,24],"mitochondrial":[3,42,120,131,148],"DNA":[4],"(mtDNA)":[5],"mutations":[6,21,39,51,99,168],"have":[7,52,100,152],"been":[8,53,101,153],"identified":[9,102],"which":[10],"cause":[11,45,72],"familial,":[12],"late":[13],"onset":[14],"neuromuscular":[15],"degenerative":[16],"diseases.":[17,165],"These":[18],"include":[19],"missense":[20,76],"in":[22,34,40,69,78,110,136,147,155,172],"most":[23],"the":[25,41,73,79,111,119,137],"mtDNA":[26,167],"polypeptide":[27],"genes":[28,44],"as":[29,31,161,174],"well":[30],"base":[32],"substitutions":[33],"several":[35,156],"tRNA":[36],"genes.":[37],"Missense":[38],"electron-transport":[43],"Leber":[46],"hereditary":[47],"optic":[48],"neuropathy.":[49],"Ten":[50],"associated":[54],"with":[55],"this":[56],"disease,":[57],"but":[58],"four":[59],"at":[60,83,114,140],"nps":[61,141],"11,178,":[62],"3460,":[63],"4160":[64],"and":[65,94,106,117,124,128,133,143,163],"15,257":[66],"appear":[67],"sufficient":[68],"themselves":[70],"to":[71],"disease.":[74],"One":[75],"mutation":[77],"ATPase":[80],"6":[81],"gene":[82,113,139],"np":[84,115],"8993":[85],"causes":[86],"a":[87,170],"second":[88],"phenotype,":[89],"neurogenic":[90],"muscle":[91],"weakness,":[92],"ataxia":[93],"retinitis":[95],"pigmentosum.":[96],"Transfer":[97],"RNA":[98],"for":[103,118,129],"myoclonic":[104],"epilepsy":[105],"ragged-red":[107],"fibre":[108],"disease":[109],"tRNA(Lys)":[112],"8344":[116],"encephalomyopathy,":[121],"lactic":[122],"acidosis":[123],"stroke-like":[125],"episodes":[126],"syndrome":[127,135],"maternal":[130],"myopathy":[132],"cardiomyopathy":[134],"tRNA(Leu)(UUR)":[138],"3234":[142],"3260,":[144],"respectively.":[145],"Deficiencies":[146],"oxidative":[149],"phosphorylation":[150],"enzymes":[151],"observed":[154],"common":[157],"neurodegenerative":[158],"diseases":[159],"such":[160],"Alzheimer":[162],"Parkinson":[164],"Perhaps":[166],"play":[169],"role":[171],"these":[173],"well.":[175]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
