{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T17:45:21Z","timestamp":1789148721871,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,4,15]],"date-time":"2007-04-15T00:00:00Z","timestamp":1176595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2003<\/jats:bold> To describe new data about the wide phenotypic variability of diseases due to mutations in the lamin A\/C gene (<jats:italic>LMNA<\/jats:italic>).<\/jats:p><jats:p><jats:bold>Design\u2003<\/jats:bold> We report a complex phenotype in a patient with familial partial lipodystrophy of the Dunnigan type (FPLD) and study the frequency of her unusual clinical signs in 19 other <jats:italic>LMNA<\/jats:italic>\u2010mutated lipodystrophic patients from 8 different families and 14 non\u2010mutated family members.<\/jats:p><jats:p><jats:bold>Case Report\u2003<\/jats:bold> The patient was diagnosed with FPLD due to the <jats:italic>R482W LMNA<\/jats:italic> mutation after familial screening. Surprisingly, she had no biological signs of insulin resistance. The presence of hypertension with hypokalaemia led to the diagnosis of primary hyperaldosteronism. Thyroid investigations showed a euthyroid multinodular goiter. In addition, the patient exhibited a juvenile akineto\u2010hypertonic syndrome.<\/jats:p><jats:p><jats:bold>Results\u2003<\/jats:bold> Goiter was identified with a similar frequency (55%) in <jats:italic>LMNA<\/jats:italic>\u2010mutated lipodystrophic patients (11 out of 20, originating from 5 families among 8) compared to non\u2010mutated family controls (35%; 5 patients out of 14, all originating from the same family). No case of primary hyperaldosteronism or extrapyramidal syndrome was identified in other studied subjects, either <jats:italic>LMNA<\/jats:italic>\u2010mutated or not.<\/jats:p><jats:p><jats:bold>Conclusions\u2003<\/jats:bold> This <jats:italic>R482W\u2010LMNA<\/jats:italic> mutated patient showed an association of features (primary hyperaldosteronism, euthyroid goiter and extra\u2010pyramidal syndrome, raising the question of a link with her laminopathy. Prevalence of goiter tended to be higher in <jats:italic>LMNA<\/jats:italic>\u2010mutated than in non\u2010mutated subjects. Hyperaldosteronism seems coincidental. Although extrapyramidal syndrome has never been reported in lipodystrophic patients, it may nevertheless be linked to the <jats:italic>LMNA<\/jats:italic> mutation since multiple neurological features have been associated with alterations in lamins A\/C.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2007.02870.x","type":"journal-article","created":{"date-parts":[[2007,5,25]],"date-time":"2007-05-25T11:23:43Z","timestamp":1180092223000},"page":"247-249","source":"Crossref","is-referenced-by-count":18,"title":["Familial partial lipodystrophy due to the <i>LMNA R482W<\/i> mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism"],"prefix":"10.1111","volume":"67","author":[{"given":"M. C.","family":"Vantyghem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Faivre\u2010Defrance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Marcelli\u2010Tourvieille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fermon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Evrard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. F.","family":"Bourdelle\u2010Hego","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Vigouroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Defebvre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Delemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Wemeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,4,15]]},"reference":[{"key":"e_1_2_3_2_2","first-page":"135","article-title":"Seip\u2013Lawrence syndrome associated with polyostotic fibrous dysplasia. Report of a case","volume":"14","author":"Peinado Cabrera E.J.","year":"1997","journal-title":"Anala Medica Interna"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.046110"},{"key":"e_1_2_3_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.312.5773.518"},{"key":"e_1_2_3_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-003-0962-4"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1872"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2265.2007.02870.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2265.2007.02870.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T12:47:12Z","timestamp":1697201232000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2265.2007.02870.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,15]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1111\/j.1365-2265.2007.02870.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2265.2007.02870.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,15]]}}}