{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T06:46:11Z","timestamp":1782369971373,"version":"3.54.5"},"reference-count":52,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"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"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Distal myopathies (DMs) comprise a heterogeneous group of hereditary muscle diseases characterized by predominant distal muscle weakness and atrophy overlapping with hereditary neuropathies, leading to diagnostic delays or misclassification.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We conducted a retrospective analysis of 125 patients from 103 families with DMs revealed at a federal genetics referral center in Russia from 2010 to 2025, representing the largest Russian DM cohort. Causative variants were identified in 20 genes, most commonly in the\n                      <jats:italic toggle=\"yes\">GNE<\/jats:italic>\n                      (30.1%),\n                      <jats:italic toggle=\"yes\">DYSF<\/jats:italic>\n                      (13.6%), and\n                      <jats:italic toggle=\"yes\">TTN<\/jats:italic>\n                      (9.7%) genes. Although distal muscle involvement predominated, lower limb muscle magnetic resonance imaging (MRI) showed proximal involvement in 93.4% (71\/76) of cases regardless of disease stage. Across the cohort, gracilis, rectus femoris, and tibialis posterior were relatively spared. Referral misdiagnosis as hereditary neuropathy occurred in 32.8% (41\/125) of cases. To characterize diagnostic pitfalls, we compared patients initially referred with neuropathy to those referred with DM. We demonstrated that group differences were evident solely in the needle electromyography (EMG) reports, while clinical features and lower limb muscle MRI data were broadly comparable. We analyzed the probable causes of EMG misinterpretations, which most commonly included severe spontaneous activity being mistaken for active denervation, high-amplitude motor unit potentials being misclassified as neurogenic, and, in some cases, the wrong choice of muscle for the study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>According to our data, one-third of patients with DM were initially referred for suspected neuropathy. In many cases, misclassification was likely due to pitfalls in EMG interpretation, highlighting the need for careful EMG analysis in patients with myopathies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602261462312","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T05:50:54Z","timestamp":1782366654000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-9862-0273","authenticated-orcid":false,"given":"Dmitrii","family":"Subbotin","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artem","family":"Borovikov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kuchina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Sharkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Vlasenko","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Rudenskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3292-2758","authenticated-orcid":false,"given":"Sergey","family":"Nikitin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Gilvanova","sequence":"additional","affiliation":[{"name":"Center for Neuromuscular Pathology, Loginov Moscow Clinical Scientific Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniil","family":"Degterev","sequence":"additional","affiliation":[{"name":"Center for Neuromuscular Pathology, Loginov Moscow Clinical Scientific Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitry","family":"Druzhinin","sequence":"additional","affiliation":[{"name":"Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Druzhinina","sequence":"additional","affiliation":[{"name":"N.I. Pirogov Russian National Research Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Grishina","sequence":"additional","affiliation":[{"name":"Center for Peripheral Nervous System Diseases, Russian \u0421enter of Neurology and Neurosciences, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Dadali","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Chausova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0368-3447","authenticated-orcid":false,"given":"Sergei","family":"Fomenko","sequence":"additional","affiliation":[{"name":"Biotech Campus LLC, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oxana","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Shchagina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"e_1_3_8_2_2","first-page":"245","article-title":"Panorama of the distal myopathies","volume":"39","author":"Savarese M","year":"2020","unstructured":"Savarese M, Sarparanta J, Vihola A, et al. 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