{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:45:49Z","timestamp":1762098349719,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:p>Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family a maternal uncle may also have been affected. Pyodermia and neutropenia was reported in one of the boys. Electron microscopy of heart muscle after necropsy showed increased numbers of mitochondria and abnormal mitochondrial crystal condensations and paracrystalline inclusions in all sibships. Barth's syndrome has been mapped to Xq28 and includes cardiomyopathy, skeletal muscle myopathy, neutropenia, and mitochondrial abnormalities similar to those found in the three families reported here. Since the clinical picture differed in the three families, they may represent more than one entity.<\/jats:p>","DOI":"10.1136\/jmg.30.4.269","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"269-272","source":"Crossref","is-referenced-by-count":17,"title":["Possible X linked congenital mitochondrial cardiomyopathy in three families."],"prefix":"10.1136","volume":"30","author":[{"given":"K H","family":"Orstavik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Skj\u00f6rten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Hellebostad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"H\u00e5g\u00e5","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Langslet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1136\/jmg.24.4.210","article-title":"Endocardial fibroelastosis: possible X linked inheritance","volume":"24","author":"Hodgson, S.; Child, A.; Dyson, M.","year":"1987","unstructured":"Hodgson S, Child A, Dyson M. Endocardial fibroelastosis: possible X linked inheritance. J Med Genet 1987;24:210-4.","journal-title":"J Med Genet"},{"key":"ref_2","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_3","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"},{"key":"ref_4","first-page":"73847","article-title":"X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria","volume":"119","author":"Kelley, R.I.; Cheatham, J.P.; Clark, B.J.","year":"1991","unstructured":"Kelley RI, Cheatham JP, Clark BJ, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991;119:73847.","journal-title":"J Pediatr"},{"issue":"13","key":"ref_5","first-page":"511","article-title":"Dilated cardiomyopathy with neutropenia, short stature and abnormal carnitine metabolism","volume":"1","author":"Ino, T.; Sherwood, W.G.; Cutz, E.; Benson, L.N.; Rose, V.; Freedom, R.M.","year":"1988","unstructured":"Ino T, Sherwood WG, Cutz E, Benson LN, Rose V, Freedom RM. Dilated cardiomyopathy with neutropenia, short stature and abnormal carnitine metabolism. J Pediatr 1988;1 13:511-4.","journal-title":"J Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1016\/0002-9149(90)91353-8","article-title":"Clinical and pathologic study of familial dilated cardiomyopathy","volume":"65","author":"Mestroni, L.; Miani, D.; Lenarda, A.","year":"1990","unstructured":"Mestroni L, Miani D, Lenarda A, et al. Clinical and pathologic study of familial dilated cardiomyopathy. Am _7 Cardiol 1990;65:1449-53.","journal-title":"Am _7 Cardiol"},{"key":"ref_7","first-page":"13543","article-title":"Familial dilated cardiomyopathy","volume":"31","author":"Schmidt, M.A.; Michels, VV, Edward; WD, Miller; F.A.","year":"1988","unstructured":"Schmidt MA, Michels VV, Edward WD, Miller FA. Familial dilated cardiomyopathy. AmJMed Genet 1988;31:13543.","journal-title":"AmJMed Genet"},{"key":"ref_8","first-page":"481","article-title":"Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28","volume":"48","author":"Bolhuis, P.A.; Hensels, G.W.; Hulsebos, T.J.M.; Baas, F.; Barth, P.G.","year":"1991","unstructured":"Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. AmJ Hum Genet 1991;48:481-5.","journal-title":"AmJ Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.4.269","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:37:31Z","timestamp":1760733451000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.4.269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1993,4,1]]},"published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1136\/jmg.30.4.269"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.4.269","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}