{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:47:28Z","timestamp":1791276448217,"version":"4.1.0"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background and Purpose\u2014<\/jats:italic>\n            <\/jats:bold>\n            Laminopathies arise through mutations in genes encoding Lamin A\/C (\n            <jats:italic>LMNA<\/jats:italic>\n            ) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Summary of Case\u2014<\/jats:italic>\n            <\/jats:bold>\n            We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical\n            <jats:italic>RECQL2<\/jats:italic>\n            mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel\n            <jats:italic>LMNA<\/jats:italic>\n            mutation.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusions\u2014<\/jats:italic>\n            <\/jats:bold>\n            In young patients with ischemic events and a positive family history, other progeroid features have to be searched and\n            <jats:italic>LMNA<\/jats:italic>\n            testing has to be considered, allowing for genetic counseling and presymptomatic testing of at-risk relatives.\n          <\/jats:p>","DOI":"10.1161\/strokeaha.108.531780","type":"journal-article","created":{"date-parts":[[2008,12,19]],"date-time":"2008-12-19T02:40:49Z","timestamp":1229654449000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":35,"title":["Novel\n            <i>LMNA<\/i>\n            Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease"],"prefix":"10.1161","volume":"40","author":[{"given":"Dimitri","family":"Renard","sequence":"first","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevieve","family":"Fourcade","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Milhaud","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Bessis","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Esteves-Vieira","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amandine","family":"Boyer","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Roll","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Bourgeois","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Levy","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annachiara","family":"De Sandre-Giovannoli","sequence":"additional","affiliation":[{"name":"From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Ho\u0302pital Gui de Chauliac, Montpellier, France; Laboratoire de Ge\u0301ne\u0301tique Mole\u0301culaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), De\u0301partement de Ge\u0301ne\u0301tique Me\u0301dicale, Ho\u0302pital d\u2019Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Ho\u0302pital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculte\u0301 de Me\u0301decine de Marseille, Marseille."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199710023371405"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5259.258"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14069-X"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm1266"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature04019"},{"key":"e_1_3_2_6_2","first-page":"165,","volume":"73","year":"2003","unstructured":"Judge DP, Rhys CMJ, Guerrerio P, Geubtner J, Zhang J, Cheng A, Dietz HC. Perturbation of alternative splicing in a novel cardiocutaneous progeria syndrome caused by mutation in lamin A\/C. Am J Hum Genet. 2003; 73: 165, A18.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.atv.0000136392.59656.8b"}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.108.531780","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T12:25:51Z","timestamp":1715603151000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.108.531780"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["10.1161\/STROKEAHA.108.531780"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.108.531780","relation":{},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2]]},"assertion":[{"value":"2008-07-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2008-07-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2008-12-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}