{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:06:15Z","timestamp":1777727175060,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"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 Int Med Res"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    This study characterizes a multigenerational family with X-linked Emery\u2013Dreifuss muscular dystrophy associated with a novel\n                    <jats:italic toggle=\"yes\">FHL1<\/jats:italic>\n                    mutation (c.746G&gt;A, p.Cys249Tyr). Among 21 family members, 5 were affected and 3 had died. The affected individuals exhibited progressive limb weakness and muscle atrophy; classical joint contractures were absent or minimal. The proband presented with mild muscle wasting and sinus tachycardia without structural cardiac abnormalities. Electromyography revealed myopathic changes with preserved nerve conduction. Thigh magnetic resonance imaging demonstrated bilateral reduction of muscle volume with fatty infiltration, and muscle biopsy confirmed variable fiber size, degeneration, and mild fibrosis consistent with a myogenic pattern. Genetic testing identified six affected members carrying the hemizygous\n                    <jats:italic toggle=\"yes\">FHL1<\/jats:italic>\n                    c.746G&gt;A variant, resulting in a cysteine-to-tyrosine substitution at codon 249. These findings expand the genotypic and phenotypic spectrum of\n                    <jats:italic toggle=\"yes\">FHL1<\/jats:italic>\n                    -related X-linked Emery\u2013Dreifuss muscular dystrophy, highlight the marked clinical and genetic heterogeneity of the disorder, and provide important insights into early diagnosis, phenotype prediction, and genetic counseling of the affected families.\n                  <\/jats:p>","DOI":"10.1177\/03000605261423294","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T04:07:55Z","timestamp":1773720475000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["X-linked Emery\u2013Dreifuss muscular dystrophy caused by a novel\n                    <i>FHL1<\/i>\n                    mutation: A case report"],"prefix":"10.1177","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5652-125X","authenticated-orcid":false,"given":"Haimei","family":"Zhang","sequence":"first","affiliation":[{"name":"Dalian University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siming","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Integrated Traditional Chinese and Western Neurology, Guangyuan Third People\u2019s Hospital, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Integrated Traditional Chinese and Western Neurology, Guangyuan Third People\u2019s Hospital, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[{"name":"Medical school of Dalian University, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Tang","sequence":"additional","affiliation":[{"name":"Dalian University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"e_1_3_10_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26782"},{"key":"e_1_3_10_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.29.4.338"},{"key":"e_1_3_10_4_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-220823"},{"key":"e_1_3_10_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200744"},{"key":"e_1_3_10_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehad735"},{"key":"e_1_3_10_7_2","volume-title":"GeneReviews\u00ae","author":"Ben Yaou R","year":"2004","unstructured":"Ben Yaou R, Leturcq F, Bonne G. Emery\u2013Dreifuss muscular dystrophy. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds) GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2004."},{"key":"e_1_3_10_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823a0ebe"},{"key":"e_1_3_10_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00302-3"},{"key":"e_1_3_10_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1499"},{"key":"e_1_3_10_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/21.4.736"},{"key":"e_1_3_10_12_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160169"},{"key":"e_1_3_10_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.1110"},{"key":"e_1_3_10_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2011.10.007"},{"key":"e_1_3_10_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000741"},{"key":"e_1_3_10_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10040732"},{"key":"e_1_3_10_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2019.03.015"},{"key":"e_1_3_10_18_2","first-page":"123","article-title":"The FHL1 myopathy spectrum revisited: a literature review and report of two new patients","volume":"43","author":"Caputo M","year":"2024","unstructured":"Caputo M, Schoser B. The FHL1 myopathy spectrum revisited: a literature review and report of two new patients. Acta Myol 2024; 43: 123\u2013129.","journal-title":"Acta Myol"},{"key":"e_1_3_10_19_2","doi-asserted-by":"publisher","DOI":"10.1536\/ihj.17-604"},{"key":"e_1_3_10_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8350-6"},{"key":"e_1_3_10_21_2","first-page":"904","article-title":"Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy","volume":"118","author":"Schessl J","year":"2008","unstructured":"Schessl J, Zou Y, McGrath MJ, et\u00a0al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest 2008; 118: 904\u2013912.","journal-title":"J Clin Invest"},{"key":"e_1_3_10_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.004"},{"key":"e_1_3_10_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261423294","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605261423294","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261423294","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:48:47Z","timestamp":1777459727000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605261423294"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1177\/03000605261423294"],"URL":"https:\/\/doi.org\/10.1177\/03000605261423294","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"article-number":"03000605261423294"}}