{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:06:14Z","timestamp":1792098374885,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,3,30]],"date-time":"2017-03-30T00:00:00Z","timestamp":1490832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: <jats:italic>Bcl\u20102\u2010associated athanogene\u20103<\/jats:italic> (<jats:italic>BAG3<\/jats:italic>) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented but usually not as a key clinical feature. <jats:italic>Methods<\/jats:italic>: We report a 24\u2010year\u2010old woman with severe rigid spine syndrome and sensory\u2010motor neuropathy resembling Charcot\u2013Marie\u2013Tooth disease (CMT). <jats:italic>Results<\/jats:italic>: Muscle MRI showed severe fat infiltration without any specific pattern. Deltoid muscle biopsy showed neurogenic changes and discrete myofibrillar abnormalities. Electrocardiogram and transthoracic echocardiography results were normal. Genetic analysis of a panel of 45 CMT genes showed no mutation. <jats:italic>BAG3<\/jats:italic> gene screening identified the previously reported c.626C&gt;T, pPro209Leu, mutation. <jats:italic>Discussion<\/jats:italic>: This case indicates that rigid spine syndrome and sensory\u2010motor axonal neuropathy are key clinical features of <jats:italic>BAG3<\/jats:italic> mutations that should be considered even without cardiac involvement. <jats:italic>Muscle Nerve<\/jats:italic>, <jats:bold>57<\/jats:bold>: 330\u2013334, 2018<\/jats:p>","DOI":"10.1002\/mus.25631","type":"journal-article","created":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T08:42:40Z","timestamp":1487752960000},"page":"330-334","source":"Crossref","is-referenced-by-count":19,"title":["Rigid spine syndrome associated with sensory\u2010motor axonal neuropathy resembling Charcot\u2013Marie\u2010Tooth disease is characteristic of <i>Bcl\u20102\u2010associated athanogene\u20103<\/i> gene mutations even without cardiac involvement"],"prefix":"10.1002","volume":"57","author":[{"given":"Jean\u2010Baptiste","family":"Noury","sequence":"first","affiliation":[{"name":"Service de Neurologie, H\u00f4pital de La Cavale Blanche CHRU Brest Boulevard Tanguy Prigent, 29609 Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Maisonobe","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris\u2010Est, Institut de Myologie CHU La Piti\u00e9\u2010Salp\u00eatri\u00e8re Assistance Publique\u2010H\u00f4pitaux de Paris, Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"UF Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique, Service de Biochimie M\u00e9tabolique, Equipe \u201cG\u00e9nomique et Physiopathologie des Maladies Cardiovasculaires\u201d, Institute of Cardiometabolism and Nutrition CHU La Piti\u00e9\u2010Salp\u00eatri\u00e8re Assistance Publique\u2010H\u00f4pitaux de Paris, Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Delague","sequence":"additional","affiliation":[{"name":"INSERM UMR_S 910 13385 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris\u2010Est, Institut de Myologie CHU La Piti\u00e9\u2010Salp\u00eatri\u00e8re Assistance Publique\u2010H\u00f4pitaux de Paris, Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris\u2010Est, Institut de Myologie CHU La Piti\u00e9\u2010Salp\u00eatri\u00e8re Assistance Publique\u2010H\u00f4pitaux de Paris, Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2015.06.002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2011.24"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21553"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.05.004"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01659.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2012.00409.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.01.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-015-9431-3"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823a0ebe"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3182a23506"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002324"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2014.09.030"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-12-192"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0121-9"},{"key":"e_1_2_6_16_1","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.nmd.2011.06.1083","article-title":"P5.54 Novel BAG3 mutations in myofibrillar myopathy patients","volume":"21","author":"Sato T","year":"2011","journal-title":"Neuromuscul Disord"}],"container-title":["Muscle &amp; 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