{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T07:01:39Z","timestamp":1765609299010},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1996,7,1]],"date-time":"1996-07-01T00:00:00Z","timestamp":836179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1996,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Point mutations in mitochondrial DNA, as found in MELAS, MERRF, NARP and other syndromes, are inherited via the maternal lineage. Genetic counselling can be beneficial, but prenatal diagnosis is not advantageous in these syndromes. Empirical data about the recurrence risk can be applied in Leber disease (LHON). Mitochondrial disorders not associated with a point mutation have a sporadic nature (large deletions\/duplications in mitochondrial DNA) or are transmitted according to Mendelian laws. Autosomal dominant inheritance is likely to be found in disorders with depletion of mitochondrial DNA. X\u2010linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E<jats:sub>1<\/jats:sub>\u03b1 subunit of the pyruvate dehydrogenase complex. Mutation analysis or linkage studies can be applied for carrier detection and prenatal diagnosis in these three types of mitochondriopathies. The majority of the disorders with a disturbed mitochondrial energy metabolism are likely inherited in an autosomal recessive mode. Prenatal diagnosis can be performed in the cases of cytochrome<jats:italic>c<\/jats:italic> oxidase and NADH dehydrogenase deficiencies in chorionic villi in selected families.<\/jats:p>","DOI":"10.1007\/bf01799118","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T21:01:28Z","timestamp":1119906088000},"page":"581-587","source":"Crossref","is-referenced-by-count":21,"title":["Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism"],"prefix":"10.1002","volume":"19","author":[{"given":"W.","family":"Ruitenbeek","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Hospital Nijmegen  PO Box 9101 Nijmegen NL\u20106500 HB The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Wendel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Nijmegen  PO Box 9101 Nijmegen NL\u20106500 HB The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. 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