{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:01:02Z","timestamp":1790834462002,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,13]],"date-time":"2017-02-13T00:00:00Z","timestamp":1486944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Charcot\u2013Marie\u2013Tooth neuropathy (CMT) 2E\/1F is caused by mutations in the neurofilament light\u2010chain polypeptide (<jats:italic>NEFL<\/jats:italic>) gene. Giant axons are a histological hallmark frequently seen in nerves of patients with CMT2E.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe the case of a 43\u2010year\u2010old patient with a painful, predominantly sensory neuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient's sural nerve biopsy showed multiple giant axons. Genetic sequencing of the <jats:italic>NEFL<\/jats:italic> gene revealed that the patient was heterozygous for an altered sequence of the gene, c.816C&gt;G, p.Asn272Lys, which has not yet been described in CMT2E\/1F.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In contrast to other cases of CMT2E\/1F, where motor symptoms are predominant, pain was the most disabling symptom in this patient. <jats:italic>Muscle Nerve<\/jats:italic> 55: 752\u2013755, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25410","type":"journal-article","created":{"date-parts":[[2016,9,20]],"date-time":"2016-09-20T23:36:44Z","timestamp":1474414604000},"page":"752-755","source":"Crossref","is-referenced-by-count":9,"title":["Painful Charcot\u2013Marie\u2013Tooth neuropathy type 2E\/1F due to a novel <i>NEFL<\/i> mutation"],"prefix":"10.1002","volume":"55","author":[{"given":"Kathrin","family":"Doppler","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital W\u00fcrzburg Josef\u2010Schneider\u2010Strasse 11 97080 W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdmute","family":"Kunstmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Gemeinschaftspraxis f\u00fcr Humangenetik Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Sommer","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital W\u00fcrzburg Josef\u2010Schneider\u2010Strasse 11 97080 W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,13]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"37","article-title":"et al","volume":"67","author":"Mersiyanova IV","year":"2000","journal-title":"A new variant of Charcot\u2010Marie\u2010Tooth disease type 2 is probably the result of a mutation in the neurofilament\u2010light gene. 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