{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:18:25Z","timestamp":1787235505342,"version":"build-2736575974"},"reference-count":57,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,4,30]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">NEFL<\/jats:italic>\n                      encodes for the neurofilament light chain protein. Pathogenic variants in\n                      <jats:italic toggle=\"yes\">NEFL<\/jats:italic>\n                      cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT) which present with a varying degree of severity and somatic mutations have not been described yet. Currently, 34 different CMT-causing pathogenic variants in\n                      <jats:italic toggle=\"yes\">NEFL<\/jats:italic>\n                      in 174 patients have been reported. Muscular involvement was also described in CMT2E patients mostly as a secondary effect. Also, there are a few descriptions of a primary muscle vulnerability upon pathogenic\n                      <jats:italic toggle=\"yes\">NEFL<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>To expand the current knowledge on the genetic landscape, clinical presentation and muscle involvement in NEFL-related neurological diseases by retrospective case study and literature review.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We applied in-depth phenotyping of new and already reported cases, molecular genetic testing, light-, electron- and Coherent Anti-Stokes Raman Scattering-microscopic studies and proteomic profiling in addition to\n                      <jats:italic toggle=\"yes\">in silico<\/jats:italic>\n                      modelling of NEFL-variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We report on a boy with a muscular phenotype (weakness, myalgia and cramps, Z-band alterations and mini-cores in some myofibers) associated with the heterozygous p.(Phe104Val)\n                      <jats:italic toggle=\"yes\">NEFL<\/jats:italic>\n                      -variant, which was previously described in a neuropathy case. Skeletal muscle proteomics findings indicated affection of cytoskeletal proteins. Moreover, we report on two further neuropathic patients (16 years old girl and her father) both carrying the heterozygous p.(Pro8Ser) variant, which has been identified as 15% somatic mosaic in the father. While the daughter presented with altered neurophysiology,neurogenic clump feet and gait disturbances, the father showed clinically only feet deformities. As missense variants affecting proline at amino acid position 8 are leading to neuropathic manifestations of different severities,\n                      <jats:italic toggle=\"yes\">in silico<\/jats:italic>\n                      modelling of these different amino acid substitutions indicated variable pathogenic impact correlating with disease onset.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Our findings provide new morphological and biochemical insights into the vulnerability of denervated muscle (upon NEFL-associated neuropathy) as well as novel genetic findings expanding the current knowledge on NEFL-related neuromuscular phenotypes and their clinical manifestations. Along this line, our data show that even subtle expression of somatic\n                      <jats:italic toggle=\"yes\">NEFL<\/jats:italic>\n                      variants can lead to neuromuscular symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230230","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T11:48:58Z","timestamp":1712317738000},"page":"625-645","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel Genetic and Biochemical Insights into the Spectrum of\n                    <i>NEFL<\/i>\n                    -Associated Phenotypes"],"prefix":"10.1177","volume":"11","author":[{"given":"Adela","family":"Della Marina","sequence":"first","affiliation":[{"name":"University Duisburg-Essen","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibniz-Institut f\u00fcr Analytische Wissenschaften -ISAS- e.V.","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artur","family":"Czech","sequence":"additional","affiliation":[{"name":"Leibniz-Institut f\u00fcr Analytische Wissenschaften -ISAS- e.V.","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"University Duisburg-Essen","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Preusse","sequence":"additional","affiliation":[{"name":"Charit\u00e9-Universit\u00e4tsmedizin Berlin","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Laner","sequence":"additional","affiliation":[{"name":"Medical Genetics Center","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Medical Genetics Center","place":["Germany"]},{"name":"Ludwig Maximilian University","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Ruck","sequence":"additional","affiliation":[{"name":"Heinrich Heine University D\u00fcsseldorf","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"RWTH Aachen University Hospital","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Choueiri","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]},{"name":"The Ottawa Hospital","place":["Canada"]},{"name":"University of Ottawa","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"University Duisburg-Essen","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"University Duisburg-Essen","place":["Germany"]},{"name":"Heinrich Heine University D\u00fcsseldorf","place":["Germany"]},{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,4,3]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1006\/exnr.1997.6654"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/cm.21676"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201912081"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sc.2008.90"},{"key":"e_1_3_5_6_2","first-page":"93","article-title":"MiR-105 and miR-9 regulate the mRNA stability of neuronal intermediate filaments","volume":"1706","author":"Hawley ZCE","year":"2019","unstructured":"HawleyZCE, Campos-MeloD, StrongMJ. 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