{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:38:38Z","timestamp":1790375918051,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,16]],"date-time":"2021-01-16T00:00:00Z","timestamp":1610755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss\u2010of\u2010function variants in the <jats:italic>HACD1<\/jats:italic> gene have been reported to cause congenital myopathy. We identified three patients manifesting with neonatal\u2010onset generalized muscle weakness and motor delay that carried three novel homozygous likely pathogenic <jats:italic>HACD1<\/jats:italic> variants. The two of these changes (c.373_375+2delGAGGT and c.785\u20101G&gt;T) were predicted to introduce splice site alterations, while one is a nonsense change (c.458G&gt;A). The clinical presentation of our and the previously reported patients was comparable, including the temporally progressive improvement that seems to be characteristic of <jats:italic>HACD1<\/jats:italic>\u2010related myopathy. Our findings conclusively confirm the implication of <jats:italic>HACD1<\/jats:italic> in the pathogenesis of congenital myopathies, corroborate the main phenotypic features, and further define the genotypic spectrum of this genetic form of myopathy. Importantly, the genetic diagnosis of <jats:italic>HACD1<\/jats:italic>\u2010related myopathy bears impactful prognostic value.<\/jats:p>","DOI":"10.1111\/cge.13905","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T09:40:49Z","timestamp":1608802849000},"page":"513-518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Biallelic loss\u2010of\u2010function <scp><i>HACD1<\/i><\/scp> variants are a bona fide cause of congenital myopathy"],"prefix":"10.1111","volume":"99","author":[{"given":"Lia","family":"Abbasi\u2010Moheb","sequence":"first","affiliation":[{"name":"CENTOGENE GmbH  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-6959","authenticated-orcid":false,"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH  Rostock Germany"},{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2083-4489","authenticated-orcid":false,"given":"Maha","family":"Alotaibi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism King Saud Medical City  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8317-5951","authenticated-orcid":false,"given":"Malak Ali","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Medical Genetic division, Pediatric department College of Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef L.","family":"Hertecant","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tawam Hospital  Al\u2010Ain UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Ariamand","sequence":"additional","affiliation":[{"name":"ImmunGeneCenter (IGC)  Erbil Iraq"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7061-2895","authenticated-orcid":false,"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH  Rostock Germany"},{"name":"University of Rostock, Medical Faculty  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9544-1877","authenticated-orcid":false,"given":"Aida M.","family":"Bertoli\u2010Avella","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH  Rostock Germany"},{"name":"University of Rostock, Medical Faculty  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9414-4555","authenticated-orcid":false,"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22510"},{"key":"e_1_2_8_3_1","first-page":"549","volume-title":"Handbook of Clinical Neurology","author":"Gonorazky HD","year":"2018"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.10.010"},{"key":"e_1_2_8_5_1","volume-title":"Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach: Second Edition","author":"Darras BT","year":"2014"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt380"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000423"},{"key":"e_1_2_8_8_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. 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