{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T10:55:12Z","timestamp":1769597712118,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T00:00:00Z","timestamp":1540512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004281","name":"National Science Centre","doi-asserted-by":"publisher","award":["2015\/17\/B\/NZ5\/01368"],"award-info":[{"award-number":["2015\/17\/B\/NZ5\/01368"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Mutations in the <jats:italic>TRPV4<\/jats:italic> gene are associated with neuromuscular disorders and skeletal dysplasias, which present a phenotypic overlap. <jats:italic>Methods<\/jats:italic>: Next\u2010generation sequencing and Sanger sequencing were used to analyze the <jats:italic>TRPV4<\/jats:italic> gene. <jats:italic>Results<\/jats:italic>: We present 2 Polish families with <jats:italic>TRPV4<\/jats:italic>\u2010related disorder harboring the same p.Arg269His mutation. The disease phenotypic expression was extremely variable (from mild scapular winging to severe hypotonia, global weakness, inability to walk unaided, congenital contractures, scoliosis, and respiratory insufficiency), but did not suggest anticipation. The 2 most severely affected patients showed congenital distal contractures of the upper limbs and involvement of cranial nerves (manifesting as facial asymmetry and strabismus). The disease course seemed to be stable, although in later stages it caused respiratory insufficiency and progression of physical disability. <jats:italic>Discussion<\/jats:italic>: The phenotypic variability observed in p.Arg269His carriers suggests that an additional modifier or a more complex pathogenic mechanism exists. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>59<\/jats:bold>:129\u2013133, 2019<\/jats:p>","DOI":"10.1002\/mus.26346","type":"journal-article","created":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T13:03:49Z","timestamp":1537362229000},"page":"129-133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The remarkable phenotypic variability of the p.Arg269HiS variant in the <i>TRPV4<\/i> gene"],"prefix":"10.1002","volume":"59","author":[{"given":"Maria","family":"J\u0119drzejowska","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences  Warsaw Poland"},{"name":"Department of Medical Genetics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"D\u0119bek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Kasprzaka 17a St, 01\u2010211, Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart\u0142omiej","family":"Kowalczyk","sequence":"additional","affiliation":[{"name":"Orthopedic Trauma Department University Children's Hospital of Cracow  Cracow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Halat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kostera\u2010Pruszczyk","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Jezela\u2010Stanek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Gasperowicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Gos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Kasprzaka 17a St, 01\u2010211, Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1992.00530330027010"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.509"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31335"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34268"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35268"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2012.219"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.512"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.237685"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.508"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq109"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000450"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.02.010"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.09.013"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.48.10.1037"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350515"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.03.007"}],"container-title":["Muscle &amp; 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