{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T14:41:04Z","timestamp":1781707264776,"version":"3.54.5"},"reference-count":11,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T00:00:00Z","timestamp":1747612800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>\n                    There is a range of phenotypes associated with pathogenic variants in the\n                    <jats:italic toggle=\"yes\">FHL1<\/jats:italic>\n                    gene, including X-linked dominant scapuloperoneal myopathy, X-linked myopathy with postural muscle atrophy, reducing body myopathy, Emery-Dreifuss muscular dystrophy, rigid-spine syndrome, and hypertrophic cardiomyopathy. This gene encodes the four-and-a-half LIM domain protein 1 which is highly expressed in skeletal and cardiac muscle. The function of this protein includes influencing cellular architecture, myoblast differentiation, mechanotransduction, and skeletal muscle fiber size. We report a case of a 6-year-old boy with a novel\n                    <jats:italic toggle=\"yes\">FHL1<\/jats:italic>\n                    gene mutation who presented to the neuromuscular clinic for evaluation of stiffness, joint contractures, and mild proximal weakness. Symptoms first noted in the newborn period have been slowly progressive. The child's presentation has not been described before and represents a new clinical phenotype within the spectrum of\n                    <jats:italic toggle=\"yes\">FHL1<\/jats:italic>\n                    -related disorders.\n                  <\/jats:p>","DOI":"10.1177\/08830738251332749","type":"journal-article","created":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T18:42:48Z","timestamp":1747680168000},"page":"696-699","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["New Clinical Phenotype in a Child Presenting With an\n                    <i>FHL1<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-3801-1554","authenticated-orcid":false,"given":"Martha","family":"Finch","sequence":"first","affiliation":[{"name":"Ann and Robert H. Lurie Children's Hospital of Chicago"},{"name":"McGaw Medical Center of Northwestern University, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Oswald","sequence":"additional","affiliation":[{"name":"Ann and Robert H. Lurie Children's Hospital of Chicago"},{"name":"McGaw Medical Center of Northwestern University, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vamshi K.","family":"Rao","sequence":"additional","affiliation":[{"name":"Ann and Robert H. Lurie Children's Hospital of Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Schwaede","sequence":"additional","affiliation":[{"name":"Ann and Robert H. Lurie Children's Hospital of Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,5,19]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M512552200"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.02.002"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.013"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.004"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn325"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.015"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24415"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01131-w"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds157"},{"key":"e_1_3_2_11_2","volume-title":"GeneReviews\u00ae [Internet]","author":"Bonne G","year":"2019","unstructured":"Bonne G. Emery-Dreifuss muscular dystrophy. In: GeneReviews\u00ae [Internet]. US National Library of Medicine; 15 Aug. 2019, www.ncbi.nlm.nih.gov\/books\/NBK1436\/."},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.03.013"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251332749","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251332749","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251332749","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:34Z","timestamp":1777495294000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251332749"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,19]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1177\/08830738251332749"],"URL":"https:\/\/doi.org\/10.1177\/08830738251332749","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,19]]}}}