{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T15:14:38Z","timestamp":1783437278277,"version":"3.54.6"},"reference-count":42,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:00:00Z","timestamp":1780617600000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01-DK101941"],"award-info":[{"award-number":["R01-DK101941"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR001105"],"award-info":[{"award-number":["UL1TR001105"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Specific heterozygous pathogenic variants in LMNA have been reported in patients with Dunnigan-type familial partial lipodystrophy (FPLD2), while other variants cause autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). FPLD2 is characterized by variable loss of subcutaneous fat from the extremities and trunk, and AD-EDMD is characterized by early joint contractures, proximal muscle weakness, and cardiac conduction defects. Previously, only 2 families have been reported with combined features of FPLD2 and AD-EDMD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report the overlapping phenotype of both FPLD2 and AD-EDMD in 5 families with heterozygous LMNA variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical, anthropometric, laboratory, and genotyping data of affected subjects from 5 families with female probands presenting with FPLD2 and AD-EDMD phenotypes were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Affected individuals (8 females, ages 18-57 years; 3 males, ages 25-41 years) harbored heterozygous p.T528R, p.R527P, p.R541P, or p.R453W LMNA variants. Five females and 2 males had joint contractures and proximal muscle weakness, and 4 females and 1 male had pacemaker-defibrillator implantation for cardiac arrhythmias, confirming AD-EDMD. Subcutaneous fat loss from the extremities confirming FPLD2 was observed in all females but only in 2 males. Four females had diabetes mellitus and hypertriglyceridemia, and 1 male had hypertriglyceridemia. Two females, 50 and 58 years old, died due to aspiration pneumonia and cerebrovascular accident, respectively, and one 40-year-old male died of alcoholic liver disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our report brings attention to the frequent co-occurrence of FPLD2 and AD-EDMD. In the future, all patients with AD-EDMD should be carefully evaluated for clinical signs of lipodystrophy and metabolic complications.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jendso\/bvag128","type":"journal-article","created":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T11:46:18Z","timestamp":1780659978000},"source":"Crossref","is-referenced-by-count":0,"title":["Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous\n                    <i>LMNA<\/i>\n                    variants"],"prefix":"10.1210","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-8663-6728","authenticated-orcid":false,"family":"Anum","sequence":"first","affiliation":[{"name":"The Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center , Dallas, TX 75390-8537 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