{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:53:41Z","timestamp":1740142421867,"version":"3.37.3"},"reference-count":9,"publisher":"Georg Thieme Verlag KG","issue":"02","license":[{"start":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T00:00:00Z","timestamp":1708646400000},"content-version":"vor","delay-in-days":22,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu\/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication.<\/jats:p>","DOI":"10.1055\/s-0044-1779508","type":"journal-article","created":{"date-parts":[[2024,2,24]],"date-time":"2024-02-24T00:15:06Z","timestamp":1708733706000},"page":"001-004","source":"Crossref","is-referenced-by-count":0,"title":["Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil"],"prefix":"10.1055","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4457-7771","authenticated-orcid":false,"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0173-0809","authenticated-orcid":false,"given":"Cl\u00e1udia Suemi Kamoi","family":"Kay","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1673-5074","authenticated-orcid":false,"given":"Renata Dal-Pra","family":"Ducci","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0778-5376","authenticated-orcid":false,"given":"Otto Jesus Hernandez","family":"Fustes","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8024-0009","authenticated-orcid":false,"given":"Paula Raquel do Vale Pascoal","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3745-7595","authenticated-orcid":false,"given":"Raquel Cristina","family":"Arndt","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3957-5317","authenticated-orcid":false,"given":"Rosana Herminia","family":"Scola","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1921-1038","authenticated-orcid":false,"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"issue":"08","key":"ref1","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.3390\/molecules25081784","article-title":"Muscle carnitine palmitoyltransferase II (CPT II) deficiency: a conceptual approach","volume":"25","author":"P R Joshi","year":"2020","journal-title":"Molecules"},{"issue":"4115","key":"ref2","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1126\/science.182.4115.929","article-title":"Muscle carnitine palmityltransferase deficiency and myoglobinuria","volume":"182","author":"S DiMauro","year":"1973","journal-title":"Science"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1001\/archneur.62.1.37","article-title":"Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects","volume":"62","author":"M Deschauer","year":"2005","journal-title":"Arch Neurol"},{"issue":"07","key":"ref4","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1002\/(SICI)1097-4598(199907)22:7<941::AID-MUS20>3.0.CO;2-Z","article-title":"Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency","volume":"22","author":"M A Mart\u00edn","year":"1999","journal-title":"Muscle Nerve"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0","article-title":"Novel mutations associated with carnitine palmitoyltransferase II deficiency","volume":"13","author":"R T Taggart","year":"1999","journal-title":"Hum Mutat"},{"issue":"05","key":"ref6","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/humu.10201","article-title":"Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency","volume":"21","author":"L Thuillier","year":"2003","journal-title":"Hum Mutat"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2013.12.026","article-title":"Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients","volume":"338","author":"P R Joshi","year":"2014","journal-title":"J Neurol Sci"},{"issue":"03","key":"ref8","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1111\/j.1399-0004.2011.01786.x","article-title":"Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency","volume":"82","author":"M Fanin","year":"2012","journal-title":"Clin Genet"},{"issue":"04","key":"ref9","first-page":"377","article-title":"[Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue]","volume":"41","author":"L C Werneck","year":"1983","journal-title":"Arq Neuropsiquiatr"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0044-1779508.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T17:15:14Z","timestamp":1730826914000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0044-1779508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":9,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2024,2,7]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["s00441779508"],"URL":"https:\/\/doi.org\/10.1055\/s-0044-1779508","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0004-282X","1678-4227"],"issn-type":[{"type":"print","value":"0004-282X"},{"type":"electronic","value":"1678-4227"}],"subject":[],"published":{"date-parts":[[2024,2]]}}}