{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T05:09:23Z","timestamp":1778821763768,"version":"3.51.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Neurol"],"abstract":"<jats:p>A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on needle EMG. Tests for acquired and genetic causes of polyneuropathy were unrevealing. The patient\u2019s first-degree cousin, with a much different clinical phenotype had been diagnosed with myofibrillar myopathy. Our patient was eventually found to carry the same myotilin c.179C&amp;#x3e;T p.Ser60Phe mutation. Muscle MRI was helpful in delineating clinically unsuspected involvement of paraspinal and pelvi-femoral muscles, as well as showing marked myopathic fatty infiltration of distal leg muscles. The association of neuropathy and myopathy is a recognized feature of myofibrillar myopathy. In some patients with unexplained foot drop, whole-body muscle MRI and a dedicated genetic mutation testing strategy may help reveal a diagnosis of genetic myopathy.<\/jats:p>","DOI":"10.1159\/000506193","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T22:00:34Z","timestamp":1583272834000},"page":"97-102","source":"Crossref","is-referenced-by-count":2,"title":["Myofibrillar Myopathy Mimicking Polyneuropathy"],"prefix":"10.1159","volume":"12","author":[{"given":"Pierre\u00a0R.","family":"Bourque","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Breiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jodi","family":"Warman-Chardon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000375"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26077"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-013-0434-4"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00005-8"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.046110"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1558979"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0000000000000113"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24620"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23716"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2017-001695"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1641574"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12385"}],"container-title":["Case Reports in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506193","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506193","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:48:03Z","timestamp":1745423283000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000506193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,3]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,6,15]]}},"URL":"https:\/\/doi.org\/10.1159\/000506193","archive":["Portico"],"relation":{},"ISSN":["1662-680X"],"issn-type":[{"value":"1662-680X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,3]]}}}