{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:43:53Z","timestamp":1760985833961,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T00:00:00Z","timestamp":1567123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN\u2010P) is characterized by adult onset, a slowly progressive course and autosomal dominant inheritance. It remains unclear whether myopathic changes occur histopathologically.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We encountered 2 patients in a family with a heterozygous p.P285L mutation in <jats:italic>TRK\u2010fused gene (TFG)<\/jats:italic>, which is known to cause HMSN\u2010P. The affected individuals developed proximal\u2010dominant muscle weakness in their 40s, which slowly progressed to a motor neuron disease\u2010like phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Muscle biopsy showed myopathic pathology including fiber size variability, increased internal nuclei, fiber splitting, and core\u2010like structures, associated with neurogenic changes: large groups of atrophic fibers and fiber type\u2010grouping. Immunohistochemistry revealed sarcoplasmic aggregates of TFG, TDP\u201043, and p62 without congophilic material.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The present study demonstrates myopathic changes in HMSN\u2010P. Although the mechanisms underlying the skeletal muscle involvement remain to be elucidated, immunohistochemistry suggests that abnormal protein aggregation may be involved in the myopathic pathology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26683","type":"journal-article","created":{"date-parts":[[2019,8,26]],"date-time":"2019-08-26T16:10:43Z","timestamp":1566835843000},"page":"739-744","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with <i>TFG<\/i> mutation"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9315-3492","authenticated-orcid":false,"given":"Satoshi","family":"Yamashita","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"En","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziwei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nozomu","family":"Tawara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kentaro","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Yoshimura","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatrics Kagoshima University Graduate School of Medical and Dental Sciences  Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Takashima","sequence":"additional","affiliation":[{"name":"Department of Neurology and Geriatrics Kagoshima University Graduate School of Medical and Dental Sciences  Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukio","family":"Ando","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410613"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316961"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.08.012"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000287"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.11.6118"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.9.3265"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20044"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21310"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2009.07.019"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.03.001"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-017-0286-y"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2010.04.041"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.131334"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11922"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12179"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI97103"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000023"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001862"}],"container-title":["Muscle &amp; 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