{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:06:43Z","timestamp":1789596403032,"version":"build-2803163510"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,4]]},"abstract":"<jats:p>We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There was no consanguinity. None of the affected boys had an anatomical cardiac abnormality. In two affected brothers, histological evidence for endomyocardial fibroelastosis was documented, and in one of these electron microscopy demonstrated abnormalities of the mitochondria as found in mitochondrial cytopathy. A review of published reports revealed five similar X linked pedigrees, and in two of these mitochondrial abnormalities were found. We suggest that these families may show an X linked recessive cardiomyopathy with mitochondrial abnormalities.<\/jats:p>","DOI":"10.1136\/jmg.24.4.210","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"210-214","source":"Crossref","is-referenced-by-count":26,"title":["Endocardial fibroelastosis: possible X linked inheritance."],"prefix":"10.1136","volume":"24","author":[{"given":"S","family":"Hodgson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Child","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Dyson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1136\/bmj.2.5400.7","volume":"2","author":"Forfar, J.O.; Miller, R.A.; Bain, A.D.; MacLeod, W.","year":"1964","unstructured":"Forfar JO, Miller RA, Bain AD, MacLeod W. Endocardial fibroelastosis. Br Med J 1964;2:7-12.","journal-title":"Endocardial fibroelastosis. Br Med J"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/S0022-3476(71)80145-2","article-title":"Endocardial fibroelastosis: family studies with special reference to counseling","volume":"79","author":"Chen, S.C.; Thompson, M.W.; Rose, V.","year":"1971","unstructured":"Chen SC, Thompson MW, Rose V. Endocardial fibroelastosis: family studies with special reference to counseling. J Pediatr 1971;79:385-92.","journal-title":"J Pediatr"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/0002-9149(70)90783-6","article-title":"Familial occurrence of the contracted form of endocardial fibroelastosis","volume":"26","author":"Fixler, D.E.; Cole, R.B.; Paul, M.H.; Girod, Lev M.; D.A.","year":"1970","unstructured":"Fixler DE, Cole RB, Paul MH, Lev M. Girod DA. Familial occurrence of the contracted form of endocardial fibroelastosis. Am J Cardiol 1970;26:208-13.","journal-title":"Am J Cardiol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/hrt.35.1.38","article-title":"Two cases of endocardial fibroelastosis-possible X-linked determination","volume":"35","author":"Lindenbaum, R.H.; Andrews, P.S.; Khan, A.S.S.I.","year":"1973","unstructured":"Lindenbaum RH, Andrews PS, Khan ASSI. Two cases of endocardial fibroelastosis-possible X-linked determination. Br Heart J 1973;35:38-40.","journal-title":"Br Heart J"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1136\/hrt.37.10.1077","article-title":"Heredity in primary endocardial fibroelastosis","volume":"37","author":"Westwood, M.; Bum, Harris R.; JL, Barson; A.J.","year":"1975","unstructured":"Westwood M, Harris R. Bum JL, Barson AJ. Heredity in primary endocardial fibroelastosis. Br Heart J 1975;37:1077-84.","journal-title":"Br Heart J"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1542\/peds.64.1.24","article-title":"An X-linked recessive cardiomyopathy with abnormal mitochondria","volume":"64","author":"Neustein, H.B.; Lurie, P.R.; Dahms, B.; Takahashi, M.","year":"1979","unstructured":"Neustein HB, Lurie PR, Dahms B, Takahashi M. An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 1979;64:24-9.","journal-title":"Pediatrics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0022-510X(83)90209-5","article-title":"An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes","volume":"62","author":"Barth, P.G.; Scholte, J.A.; Berden, J.A.","year":"1983","unstructured":"Barth PG, Scholte JA, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983;62:327-55.","journal-title":"J Neurol Sci"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.4.210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:31:34Z","timestamp":1760722294000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.4.210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,4]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1987,4,1]]},"published-print":{"date-parts":[[1987,4]]}},"alternative-id":["10.1136\/jmg.24.4.210"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.4.210","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,4]]}}}