{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:24:09Z","timestamp":1791221049237,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,6,30]],"date-time":"2014-06-30T00:00:00Z","timestamp":1404086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Respiratory muscle testing is often limited to noninvasive volitional tests such as vital capacity and maximal static pressures. We report the case of a 12\u2010year\u2010old boy with congenital muscular dystrophy (<jats:styled-content style=\"fixed-case\">CMD<\/jats:styled-content>) in whom invasive and non\u2010volitional respiratory muscle tests showed an elective diaphragmatic dysfunction with the preservation of expiratory muscle strength. This finding, coupled with a clinical phenotype associating diffuse muscle atrophy with finger hyperlaxity and proximal contractures, strengthened the suspicion of <jats:styled-content style=\"fixed-case\">U<\/jats:styled-content>llrich <jats:styled-content style=\"fixed-case\">CMD<\/jats:styled-content>. Skin\u2010cultured fibroblasts showed intracellular retention of collagen 6 (<jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>6), muscle magnetic resonance imaging was typical of <jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>6 myopathy, and molecular studies identified a <jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>6 gene mutation (<jats:styled-content style=\"fixed-case\">COL6A2<\/jats:styled-content> c.954+2<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>). The diagnosis of a diaphragmatic dysfunction led to a sleep study that evidenced periods of hypoxemia which justified nocturnal noninvasive ventilation. This case report highlights the benefit of assessing respiratory muscles, through invasive procedure, to assist in clinical diagnosis and to guide clinical management.<\/jats:p>","DOI":"10.1002\/rcr2.61","type":"journal-article","created":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T01:02:20Z","timestamp":1404176540000},"page":"95-98","source":"Crossref","is-referenced-by-count":8,"title":["The value of respiratory muscle testing in a child with congenital muscular dystrophy"],"prefix":"10.1002","volume":"2","author":[{"given":"Sonia","family":"Khirani","sequence":"first","affiliation":[{"name":"ASV Sant\u00e9  Gennevilliers France"},{"name":"AP\u2010HP Pediatric Noninvasive Ventilation and Sleep Unit H\u00f4pital Necker  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Dabaj","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Department Reference Centre for Neuromuscular Disorders (GNMH) H\u00f4pital Raymond Poincar\u00e9  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Amaddeo","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health Pediatric Department IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Ramirez","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Noninvasive Ventilation and Sleep Unit H\u00f4pital Necker  Paris France"},{"name":"ADEP Assistance  Suresnes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano\u2010Roy","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Department Reference Centre for Neuromuscular Disorders (GNMH) H\u00f4pital Raymond Poincar\u00e9  Garches France"},{"name":"Versailles UVSQ University  Versailles France"},{"name":"UMRS_974 Inserm  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Fauroux","sequence":"additional","affiliation":[{"name":"AP\u2010HP Pediatric Noninvasive Ventilation and Sleep Unit H\u00f4pital Necker  Paris France"},{"name":"U 955 Equipe 13 INSERM  Cr\u00e9teil France"},{"name":"Paris Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,6,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.08.003"},{"key":"e_1_2_6_3_1","first-page":"488","article-title":"Inspiratory muscle function in unilateral diaphragmatic paralysis","volume":"134","author":"Lisboa C","year":"1986","journal-title":"Am. 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