{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:32:54Z","timestamp":1790649174684,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,8,21]],"date-time":"2015-08-21T00:00:00Z","timestamp":1440115200000},"content-version":"vor","delay-in-days":81,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Medical Research Council"},{"name":"NINDS\/ORD","award":["1U54NS065712-01"],"award-info":[{"award-number":["1U54NS065712-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2015,6]]},"abstract":"Abstract<\/jats:title>Mitofusin 2 (MFN2<\/jats:styled-content><\/jats:italic>) mutations are the most common cause of axonal Charcot\u2010Marie\u2010Tooth disease (CMT2). The majority are inherited in an autosomal dominant manner but recessive and semi\u2010dominant kindreds have also been described. We previously reported a deletion of exons 7 and 8 resulting in nonsense\u2010mediated decay, segregating with disease when present in trans<\/jats:italic> with another pathogenic MFN2<\/jats:styled-content><\/jats:italic> mutation. Detailed clinical and electrophysiological data on a series of five affected patients from four kindreds and, when available, their parents and relatives were collected. MFN2<\/jats:styled-content><\/jats:italic> Sanger sequencing, multiplex ligation probe amplification, and haplotype analysis were performed. A severe early\u2010onset CMT<\/jats:styled-content> phenotype was seen in all cases: progressive distal weakness, wasting, and sensory loss from infancy or early childhood. Optic atrophy (four of five) and wheelchair dependency in childhood were common (four of five). All were compound heterozygous for a deletion of exons 7 and 8 in MFN2<\/jats:styled-content><\/jats:italic> with another previously reported pathogenic mutation (Phe216Ser<\/jats:styled-content>, Thr362Met<\/jats:styled-content>, and Arg707Trp<\/jats:styled-content>). Carrier parents and relatives were unaffected (age range: 24\u201382 years). Haplotype analysis confirmed that the deletion had a common founder in all families.<\/jats:p>","DOI":"10.1111\/jns.12117","type":"journal-article","created":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T10:38:53Z","timestamp":1435315133000},"page":"67-71","source":"Crossref","is-referenced-by-count":24,"title":["MFN2<\/scp><\/i> deletion of exons 7 and 8: founder mutation in the UK<\/scp> population"],"prefix":"10.1111","volume":"20","author":[{"given":"Aisling S.","family":"Carr","sequence":"first","affiliation":[{"name":"MRC Centre for Neuromuscular diseases National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James M.","family":"Polke","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Wilson","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana L.","family":"Pelayo\u2010Negro","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular diseases National Hospital for Neurology and Neurosurgery London UK"},{"name":"Service of Neurology University Hospital \u201cMarqu\u00e9s de Valdecilla (IDIVAL)\u201d, UC and CIBERNED Santander Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laura","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular diseases National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Nanji","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Holt","sequence":"additional","affiliation":[{"name":"Department of Neurology The Walton Centre Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Vaughan","sequence":"additional","affiliation":[{"name":"Department of Neurology Charing Cross Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Royal Devon and Exeter Hospital Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary G.","family":"Sweeney","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Blake","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular diseases National Hospital for Neurology and Neurosurgery London UK"},{"name":"Department of Clinical Neurophysiology Norfolk and Norwich University Hospital Norwich UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular diseases National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-48"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.284"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng917"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302451"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000311275.89032.22"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182242d4d"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1341"}],"container-title":["Journal of the Peripheral Nervous 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