{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T10:02:35Z","timestamp":1790071355030,"version":"4.0.1"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100007632","name":"Changhua Christian Hospital","doi-asserted-by":"publisher","award":["113\u2010CCH\u2010IRP\u2010065"],"award-info":[{"award-number":["113\u2010CCH\u2010IRP\u2010065"]}],"id":[{"id":"10.13039\/501100007632","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>Mitofusin 2 (MFN2)\u2010related Charcot\u2013Marie\u2013Tooth disease type 2A (CMT2A) is often associated with early onset, severe progressive weakness, distal wasting, and reduced motor and sensory response amplitudes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Report<\/jats:title>\n                    <jats:p>We report a 30\u2010year\u2010old Taiwanese woman with infancy\u2010onset, severe axonal sensorimotor neuropathy, progressive distal weakness and wasting, optic atrophy, bilateral sensorineural hearing loss, hypophonia, and wheelchair dependence from adolescence. Nerve conduction study was consistent with severe chronic axonal sensorimotor polyneuropathy. Whole\u2010exome sequencing identified a heterozygous de novo Mitofusin 2 (MFN2) variant, NM_014874.4:c.284G&gt;T, predicting p.Arg95Met.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This case expands the genotypic spectrum of MFN2\u2010related Charcot\u2013Marie\u2013Tooth disease type 2A and supports the clinical importance of the Arg94\/Arg95 region in severe early\u2010onset MFN2 neuropathy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70136","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T08:06:19Z","timestamp":1782288379000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De Novo\n                    <scp>MFN2<\/scp>\n                    p.\n                    <scp>Arg95Met<\/scp>\n                    in Severe Charcot\u2010Marie\u2010Tooth Disease Type\n                    <scp>2A<\/scp>"],"prefix":"10.1111","volume":"31","author":[{"given":"Hsi\u2010Yen","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Neurology Changhua Christian Hospital  Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Ling","family":"Cheng","sequence":"additional","affiliation":[{"name":"Institute of ATP, Vascular and Genomics Center Changhua Christian Hospital  Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin\u2010Hung","family":"Pan","sequence":"additional","affiliation":[{"name":"Institute of ATP, Vascular and Genomics Center Changhua Christian Hospital  Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia\u2010Ju","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology Changhua Christian Hospital  Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yau\u2010Huei","family":"Wei","sequence":"additional","affiliation":[{"name":"Center for Mitochondrial Medicine and Free Radical Research Changhua Christian Hospital  Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8241-9654","authenticated-orcid":false,"given":"Chin\u2010San","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology Changhua Christian Hospital  Changhua Taiwan"},{"name":"Institute of ATP, Vascular and Genomics Center Changhua Christian Hospital  Changhua Taiwan"},{"name":"Graduate Institute of Integrated Medicine China Medical University  Taichung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2024.106467"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31821a441e"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl126"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.284"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.12.008"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70136","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70136","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:14:45Z","timestamp":1790068485000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,24]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1111\/jns.70136"],"URL":"https:\/\/doi.org\/10.1111\/jns.70136","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,24]]},"assertion":[{"value":"2026-05-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70136"}}