{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:09:08Z","timestamp":1791342548178,"version":"4.3.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:00:00Z","timestamp":1458172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"E-Rare grant GenoMit"},{"name":"Manackerman Charitable Trust"},{"name":"Hadassah Compensatory Fund"},{"name":"Karl Kahane Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      An emerging class of mitochondrial disorders is caused by mutations in nuclear genes affecting mitochondrial dynamics and function. One of these is the\n                      <jats:italic>DNM1L<\/jats:italic>\n                      gene encoding the dynamin\u2010related protein 1 (DRP1), which is pivotal in the mitochondrial fission process. Here, we describe a patient with a novel dominant\u2010negative, de novo\n                      <jats:italic>DNM1L<\/jats:italic>\n                      mutation, which expands the clinical spectrum. The patient reported here exhibits a chronic neurological disorder, characterized by postnatal microcephaly, developmental delay, and pain insensitivity. Muscle biopsy disclosed decreased respiratory chain complex IV activity. Exome sequencing showed a de novo heterozygous c.1084G&gt;A (p.G362S) mutation. Subsequent studies of patient skin fibroblasts showed markedly impaired mitochondrial fission and a partial respiratory chain defect while peroxisomal morphology remained intact. Human foreskin fibroblasts over\u2010expressing the mutant\n                      <jats:italic>DNM1L<\/jats:italic>\n                      gene displayed aberrant mitochondrial morphology. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37624","type":"journal-article","created":{"date-parts":[[2016,3,19]],"date-time":"2016-03-19T03:11:53Z","timestamp":1458357113000},"page":"1603-1607","source":"Crossref","is-referenced-by-count":97,"title":["Postnatal microcephaly and pain insensitivity due to a de novo heterozygous\n                    <i>DNM1L<\/i>\n                    mutation causing impaired mitochondrial fission and function"],"prefix":"10.1002","volume":"170","author":[{"given":"Ruth","family":"Sheffer","sequence":"first","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liza","family":"Douiev","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Edvardson","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avraham","family":"Shaag","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled","family":"Tamimi","sequence":"additional","affiliation":[{"name":"Meuhedet Health Service Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devorah","family":"Soiferman","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Saada","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"},{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/nrneurol.2014.228","article-title":"Disturbed mitochondrial dynamics and neurodegenerative disorders","volume":"1","author":"Burt\u00e9 F","year":"2015","journal-title":"Nat Rev 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