{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:12:42Z","timestamp":1777857162621,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,1,3]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>The number of mutations in nuclear encoded genes causing mitochondrial disease is ever increasing. Identification of these mutations is particularly important in the diagnosis of neuromuscular disorders as their presentation may mimic other acquired disorders.We present a novel heterozygous variant in mitochondrial fission factor (MFF) which mimics myasthenia gravis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To determine if the MFF c.937G&gt;A, p.E313K variant causes a mild mitochondrial phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We used whole exome sequencing (WES) to identify a novel heterozygous variant in MFF in a patient with ptosis, fatigue and muscle weakness. Using patient derived fibroblasts, we performed assays to evaluate mitochondrial and peroxisome dynamics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We show that fibroblasts derived from this patient are defective in mitochondrial fission, despite normal recruitment of Drp1 to the mitochondria.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The MFF c.937G&gt;A, p.E313K variant leads to a mild mitochondrial phenotype and is associated with defective mitochondrial fission in patient-derived fibroblasts.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-221532","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T04:51:19Z","timestamp":1667019079000},"page":"107-118","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Heterozygous Mutation in\n                    <i>MFF<\/i>\n                    Associated with a Mild Mitochondrial Phenotype"],"prefix":"10.1177","volume":"10","author":[{"given":"Daisuke","family":"Murata","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Grunseich","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miho","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Corse","sequence":"additional","affiliation":[{"name":"Neuromuscular Medicine, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Hoke","sequence":"additional","affiliation":[{"name":"Neuromuscular Medicine, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Schindler","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Sesaki","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo H.","family":"Roda","sequence":"additional","affiliation":[{"name":"Neuromuscular Medicine, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e07-12-1287"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2020.118709"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201007152"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e12-10-0721"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11095-009-9863-9"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201507035"},{"key":"e_1_3_4_8_2","doi-asserted-by":"crossref","unstructured":"ZhouH HuS JinQ ShiC ZhangY ZhuP et al. Mffdependent mitochondrial fission contributes to the pathogenesis of cardiac microvasculature ischemia\/reperfusion injury via induction of mROS-mediated cardiolipin oxidation and HK2\/VDAC1 disassociation-involved mPTP opening. 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