{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:36:34Z","timestamp":1787315794510,"version":"build-2736575974"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T00:00:00Z","timestamp":1552521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011272","name":"FP7 Health","doi-asserted-by":"publisher","award":["305121"],"award-info":[{"award-number":["305121"]}],"id":[{"id":"10.13039\/100011272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011272","name":"FP7 Health","doi-asserted-by":"publisher","award":["305444"],"award-info":[{"award-number":["305444"]}],"id":[{"id":"10.13039\/100011272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CP09\/00011"],"award-info":[{"award-number":["CP09\/00011"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["DTS16\/00196"],"award-info":[{"award-number":["DTS16\/00196"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI16\/00579"],"award-info":[{"award-number":["PI16\/00579"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CM17\/00054"],"award-info":[{"award-number":["CM17\/00054"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>\n                    Mutations in the\n                    <jats:italic>CHRNG<\/jats:italic>\n                    gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long\u2010term follow\u2010up of seven patients with\n                    <jats:italic>CHRNG<\/jats:italic>\n                    \u2010related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole\u2010body magnetic resonance imaging (WBMRI).\n                    <jats:italic>CHRNG<\/jats:italic>\n                    mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years. Postnatal abnormalities at the neuromuscular junction were observed in the muscle biopsy of these patients. WBMRI showed distinctive features different from other arthrogryposis multiple congenita. A marked muscle bulk reduction is the predominant finding, mostly affecting the spinal erector muscles and gluteus maximus. Fatty infiltration was only observed in deep paravertebral muscles and distal lower limbs. Mutations in\n                    <jats:italic>CHRNG<\/jats:italic>\n                    are mainly located at the extracellular domain of the protein. Our study contributes to further define the phenotypic spectrum of\n                    <jats:italic>CHRNG<\/jats:italic>\n                    \u2010related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61122","type":"journal-article","created":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T04:54:10Z","timestamp":1552539250000},"page":"915-926","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>CHRNG<\/i>\n                    \u2010related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings"],"prefix":"10.1002","volume":"179","author":[{"given":"Laura","family":"Carrera\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Neuropaediatrics Department Institut de Recerca Hospital Universitari Sant Joan de Deu  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ISCIII  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7764-2085","authenticated-orcid":false,"given":"Daniel","family":"Natera\u2010de Benito","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Neuropaediatrics Department Institut de Recerca Hospital Universitari Sant Joan de Deu  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ISCIII  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4362-4062","authenticated-orcid":false,"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation CHU de Grenoble Alpes  Grenoble Cedex 9 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2252-0694","authenticated-orcid":false,"given":"Marta G. G.","family":"de la Banda","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation Raymond Poincar\u00e9 University Hospital (AP\u2010HP; UVSQ Paris Saclay)  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Felter","sequence":"additional","affiliation":[{"name":"Department of Medical Radiology Raymond Poincar\u00e9 University Hospital (AP\u2010HP; UVSQ Paris Saclay)  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emili","family":"Inarejos","sequence":"additional","affiliation":[{"name":"Department of Radiology Hospital Universitari Sant Joan de Deu  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Codina","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Neuropaediatrics Department Institut de Recerca Hospital Universitari Sant Joan de Deu  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ISCIII  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Jou","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Neuropaediatrics Department Institut de Recerca Hospital Universitari Sant Joan de Deu  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ISCIII  Barcelona Spain"},{"name":"Department of Pathology Hospital Sant Joan de Deu  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Roldan","sequence":"additional","affiliation":[{"name":"Confocal Microscopy Unit, Department of Pathology Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Palau","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine Hospital Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Laboratory of Neurogenetics and Molecular Medicine Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Barcelona Spain"},{"name":"Division of Pediatrics University of Barcelona School of Medicine  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Hoenicka","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Molecular Medicine Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Salud Mental (CIBERSAM)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Pijuan","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Molecular Medicine Institut de Recerca Sant Joan de D\u00e9u  Barcelona 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