{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T22:33:18Z","timestamp":1759617198221},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,11,11]],"date-time":"2014-11-11T00:00:00Z","timestamp":1415664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:p>Our patient is a 65\u2010year\u2010old woman presenting with bilateral pes cavus, pronounced distal muscle wasting, weakness and areflexia. Electrophysiological findings included diffuse unrecordable motor and sensory responses. While the <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content> phenotype was evident, the lack of family history and the severe, but unspecific electrophysiological impairment, was a challenge for genetic diagnosis. A sural nerve biopsy was performed, showing a severe loss of myelinated fibers with residual axons surrounded by myelin outfoldings. Whereas myelin outfoldings are a pathological hallmark of autosomal recessive <jats:styled-content style=\"fixed-case\">CMT4B1<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CMT4B2<\/jats:styled-content>, due to mutations in myotubularin\u2010related 2 (<jats:italic><jats:styled-content style=\"fixed-case\">MTMR2<\/jats:styled-content><\/jats:italic>) and 13 <jats:italic>(<jats:styled-content style=\"fixed-case\">MTMR13<\/jats:styled-content>)<\/jats:italic> genes respectively, they may also occur in nerve biopsies from <jats:styled-content style=\"fixed-case\">CMT1B<\/jats:styled-content> patients. By direct sequencing, a novel heterozygous transversion c.<jats:styled-content style=\"fixed-case\">410G&gt;T<\/jats:styled-content> in <jats:italic><jats:styled-content style=\"fixed-case\">MPZ<\/jats:styled-content><\/jats:italic> gene was demonstrated, producing an amino acid change from glycine to valine in position 108 (p.<jats:styled-content style=\"fixed-case\">G108V<\/jats:styled-content>). In HeLa cells the fusion <jats:styled-content style=\"fixed-case\">P0G108V<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">EGFP<\/jats:styled-content> was normally trafficked to the cell membrane, but with decreased P0 adhesion function, compared with wild\u2010type P0, thus supporting a pathogenic role of the new variant. In conclusion this case highlights the relevance, in selected cases, of sural nerve biopsy to orient the genetic\/molecular tests, while <jats:italic>in vitro<\/jats:italic> analyses may strengthen the pathogenic role of novel mutations.<\/jats:p>","DOI":"10.1111\/neup.12179","type":"journal-article","created":{"date-parts":[[2014,11,12]],"date-time":"2014-11-12T03:11:52Z","timestamp":1415761912000},"page":"254-259","source":"Crossref","is-referenced-by-count":2,"title":["Sural nerve biopsy and functional studies support the pathogenic role of a novel <i><scp>MPZ<\/scp><\/i> mutation"],"prefix":"10.1111","volume":"35","author":[{"given":"Valeria","family":"Prada","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health Section of Neurology University of Genova  Genova 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