{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T02:36:34Z","timestamp":1781058994976,"version":"3.54.1"},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Pierfranco and Luisa Mariani Foundation"},{"name":"Italian Association Mitocon"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1016\/j.mito.2019.04.002","type":"journal-article","created":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T11:45:59Z","timestamp":1555069559000},"page":"24-29","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene"],"prefix":"10.1016","volume":"47","author":[{"given":"Silvia","family":"Marchet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8072-0152","authenticated-orcid":false,"given":"Federica","family":"Invernizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Blasevich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Dusi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Venco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-6692","authenticated-orcid":false,"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Pallotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Lamantea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Mora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3584-7338","authenticated-orcid":false,"given":"Valeria","family":"Tiranti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2280-2253","authenticated-orcid":false,"given":"Costanza","family":"Lamperti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"Pt 1","key":"10.1016\/j.mito.2019.04.002_bb0005","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1093\/brain\/awt325","article-title":"Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model","volume":"137","author":"Brunetti","year":"2014","journal-title":"Brain."},{"issue":"2\u20133","key":"10.1016\/j.mito.2019.04.002_bb0010","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bbabio.2004.09.006","article-title":"Clinical and molecular findings in children with complex I deficiency","volume":"1659","author":"Bugiani","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"issue":"1","key":"10.1016\/j.mito.2019.04.002_bb0015","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.braindev.2015.05.008","article-title":"Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene","volume":"38","author":"Castro-Gago","year":"2016","journal-title":"Brain and Development"},{"key":"10.1016\/j.mito.2019.04.002_bb0020","first-page":"71","article-title":"Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy","volume":"15","author":"Diodato","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.mito.2019.04.002_bb0025","series-title":"Muscle Biopsy, A Pratical Approach","author":"Dubowiz","year":"1985"},{"issue":"2","key":"10.1016\/j.mito.2019.04.002_bb0030","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.2008.061929","article-title":"Clinical and genetic delineation of neurodegeneration with brain iron accumulation","volume":"46","author":"Gregory","year":"2009","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.mito.2019.04.002_bb0035","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1001\/archneurol.2011.2333","article-title":"Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene","volume":"69","author":"Guti\u00e9rrez R\u00edos","year":"2012","journal-title":"Arch. Neurol."},{"issue":"1","key":"10.1016\/j.mito.2019.04.002_bb0040","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1056\/NEJMoa020817","article-title":"Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome","volume":"348","author":"Hayflick","year":"2003","journal-title":"N. Engl. J. Med."},{"issue":"13","key":"10.1016\/j.mito.2019.04.002_bb0045","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1212\/WNL.0000000000001416","volume":"84","author":"Kang","year":"2015","journal-title":"Neurology."},{"issue":"3","key":"10.1016\/j.mito.2019.04.002_bb0050","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s10545-012-9509-7","article-title":"Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases","volume":"36","author":"Lamari","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"issue":"10","key":"10.1016\/j.mito.2019.04.002_bb0055","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1080\/15548627.2015.1078962","article-title":"Precision autophagy: will the next wave of selective autophagy markers and specific autophagy inhibitors feed clinical pipelines?","volume":"11","author":"Lebovitz","year":"2015","journal-title":"Autophagy."},{"issue":"4","key":"10.1016\/j.mito.2019.04.002_bb0060","doi-asserted-by":"crossref","first-page":"e162","DOI":"10.1212\/NXG.0000000000000162","article-title":"Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo","volume":"3","author":"McNeill","year":"2017","journal-title":"Neurol Genet."},{"issue":"4","key":"10.1016\/j.mito.2019.04.002_bb0065","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ceb.2005.06.014","article-title":"How mitochondria fuse","volume":"17","author":"Meeusen","year":"2005","journal-title":"Curr. Opin. Cell Biol."},{"issue":"12","key":"10.1016\/j.mito.2019.04.002_bb0070","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.4161\/auto.7.12.17925","article-title":"Phospholipid synthetic defect and mitophagy in muscle disease","volume":"7","author":"Mitsuhashi","year":"2011","journal-title":"Autophagy"},{"issue":"6","key":"10.1016\/j.mito.2019.04.002_bb0075","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.ajhg.2011.05.010","article-title":"A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis","volume":"88","author":"Mitsuhashi","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.mito.2019.04.002_bb0080","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.5692\/clinicalneurol.53.1112","article-title":"New congenital muscular dystrophy due to CHKB mutations","volume":"53","author":"Nishino","year":"2013","journal-title":"Rinsho Shinkeigaku"},{"issue":"1","key":"10.1016\/j.mito.2019.04.002_bb0085","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/(SICI)1097-4598(199801)21:1<40::AID-MUS6>3.0.CO;2-G","article-title":"A new congenital muscular dystrophy with mitochondrial structural abnormalities","volume":"21","author":"NishinoI","year":"1998","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.mito.2019.04.002_bb0090","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1086\/377107","article-title":"New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype","volume":"73","author":"Pan","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.mito.2019.04.002_bb0095","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.21417","article-title":"De novo LMNA mutations cause a new form of congenital muscular dystrophy","volume":"64","author":"Quijano-Roy","year":"2008","journal-title":"Ann. Neurol."},{"issue":"7","key":"10.1016\/j.mito.2019.04.002_bb0100","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.nmd.2013.04.002","article-title":"Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype","volume":"23","author":"Quinlivan","year":"2013","journal-title":"Neuromuscul. Disord."},{"issue":"9","key":"10.1016\/j.mito.2019.04.002_bb0105","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1016\/j.biocel.2008.01.013","article-title":"Choline kinase as a link connecting phospholipid metabolism and cell cycle regulation: implications in cancer therapy","volume":"40","author":"Ram\u00edrez de Molina","year":"2008","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.mito.2019.04.002_bb0110","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S0076-6879(96)64045-2","article-title":"Cytochemistry and immunocytochemistry of mitochondria in tissue sections","volume":"264","author":"Sciacco","year":"1996","journal-title":"Methods Enzymol."},{"issue":"35","key":"10.1016\/j.mito.2019.04.002_bb0115","doi-asserted-by":"crossref","first-page":"5589","DOI":"10.1021\/bi500868g","article-title":"Increasing mitochondrial membrane phospholipid content lowers the enzymatic activity of electron transport complexes","volume":"53","author":"Shaikh","year":"2014","journal-title":"Biochemistry."},{"issue":"8","key":"10.1016\/j.mito.2019.04.002_bb0120","doi-asserted-by":"crossref","first-page":"4938","DOI":"10.1074\/jbc.M512578200","article-title":"A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis","volume":"281","author":"Sher","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"3631","key":"10.1016\/j.mito.2019.04.002_bb0125","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1126\/science.145.3631.493","article-title":"Human myopathy with giant abnormal mitochondria","volume":"145","author":"Shy","year":"1964","journal-title":"Science."},{"issue":"1","key":"10.1016\/j.mito.2019.04.002_bb0130","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/brain\/89.1.133","article-title":"Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy","volume":"89","author":"Shy","year":"1966","journal-title":"Brain."},{"key":"10.1016\/j.mito.2019.04.002_bb0135","series-title":"GeneReviews\u00ae[Internet]","article-title":"Congenital\u00a0Muscular Dystrophy\u00a0Overview","author":"Sparks","year":"2012"},{"issue":"8","key":"10.1016\/j.mito.2019.04.002_bb0140","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1093\/hmg\/4.8.1421","article-title":"Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene","volume":"4","author":"Tiranti","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2019.04.002_bb0145","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.mito.2016.02.001","article-title":"Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses","volume":"27","author":"Vanlande","year":"2016","journal-title":"Mitochondrion."},{"key":"10.1016\/j.mito.2019.04.002_bb0150","doi-asserted-by":"crossref","DOI":"10.1155\/2016\/3128735","article-title":"Importance of skin changes in the differential diagnosis of congenital muscular dystrophies","volume":"2016","author":"Yis","year":"2016","journal-title":"Biomed. Res. Int."},{"issue":"7","key":"10.1016\/j.mito.2019.04.002_bb0155","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/j.bbadis.2015.04.013","article-title":"Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy","volume":"1852","author":"Zanotti","year":"2015","journal-title":"Biochim. Biophys. Acta"}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724918301582?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724918301582?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T11:46:03Z","timestamp":1573645563000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724918301582"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":31,"alternative-id":["S1567724918301582"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2019.04.002","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2019.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}