{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:12:28Z","timestamp":1790745148357,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,12,7]],"date-time":"2016-12-07T00:00:00Z","timestamp":1481068800000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Charcot\u2010Marie\u2010Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the <jats:italic>MFN2<\/jats:italic> gene coding for the mitochondrial fusion protein mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early\u2010onset autosomal recessive CMT2A (AR\u2010CMT2A) have been reported in recent years. In this study, we characterized the structure of the  mitochondrial network in cultured primary fibroblasts obtained from AR\u2010CMT2A family members. The patient\u2010derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume. Interestingly, fibroblasts derived from the two asymptomatic parents showed similar changes to a lesser extent. These results support the hypothesis that AR\u2010CMT2A\u2010related MFN2 mutations acts through a semi\u2010dominant negative mechanism and suggest that other biological parameters might show mild alterations in asymptomatic heterozygote AR\u2010CMT2A patients. Such alterations could be useful biomarkers helping to distinguish <jats:italic>MFN2<\/jats:italic> mutations from variants, a growing challenge with the advent of next generation sequencing into routine clinical practice.<\/jats:p>","DOI":"10.1111\/jns.12192","type":"journal-article","created":{"date-parts":[[2016,10,12]],"date-time":"2016-10-12T19:56:44Z","timestamp":1476302204000},"page":"365-369","source":"Crossref","is-referenced-by-count":15,"title":["Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations"],"prefix":"10.1111","volume":"21","author":[{"given":"Philippe","family":"Codron","sequence":"first","affiliation":[{"name":"PREMMi\/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083 Universit\u00e9 d'Angers, CHU d'Angers  Angers France"},{"name":"Department of Neurology University Hospital of Angers  Angers 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