{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T10:19:43Z","timestamp":1780481983550,"version":"3.54.1"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T00:00:00Z","timestamp":1689984000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["02\u2010H\u20100050"],"award-info":[{"award-number":["02\u2010H\u20100050"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["12\u2010N\u20100095"],"award-info":[{"award-number":["12\u2010N\u20100095"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p><jats:italic>FHL1<\/jats:italic>\u2010related reducing body myopathy is an ultra\u2010rare, X\u2010linked dominant myopathy. In this cross\u2010sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in <jats:italic>FHL1<\/jats:italic>\u2010related reducing body myopathy patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Seventeen patients (11 male, mean age 35.4, range 12\u201376\u2009years) from nine independent families with <jats:italic>FHL1<\/jats:italic>\u2010related reducing body myopathy underwent clinical evaluation, muscle ultrasound (<jats:italic>n<\/jats:italic>\u2009=\u200911\/17), and lower extremity muscle MRI (<jats:italic>n<\/jats:italic>\u2009=\u200914\/17), including Dixon MRI (<jats:italic>n<\/jats:italic>\u2009=\u20096\/17). Muscle ultrasound echogenicity was graded using a modified Heckmatt scale. T1 and STIR axial images of the lower extremity muscles were evaluated for pattern and distribution of abnormalities. Quantitative analysis of intramuscular fat fraction was performed using the Dixon MRI images. Cardiac studies included electrocardiogram (<jats:italic>n<\/jats:italic>\u2009=\u200915\/17), echocardiogram (<jats:italic>n<\/jats:italic>\u2009=\u200917\/17), and cardiac MRI (<jats:italic>n<\/jats:italic>\u2009=\u20096\/17). Cardiac muscle function, T1 maps, T2\u2010weighted black blood images, and late gadolinium enhancement patterns were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Muscle ultrasound showed a distinct pattern of increased echointensity in skeletal muscles with a nonuniform, multifocal, and \u201cgeographical\u201d distribution, selectively involving the deeper fascicles of muscles such as biceps and tibialis anterior. Lower extremity muscle MRI showed relative sparing of gluteus maximus, rectus femoris, gracilis, and lateral gastrocnemius muscles and an asymmetric and multifocal, \u201cgeographical\u201d pattern of T1 hyperintensity within affected muscles. Cardiac studies revealed mild and nonspecific abnormalities on electrocardiogram and echocardiogram with unremarkable cardiac MRI studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Skeletal muscle ultrasound and muscle MRI reflect the multifocal aggregate formation in muscle in <jats:italic>FHL1<\/jats:italic>\u2010related reducing body myopathy and are practical and informative tools that can aid in diagnosis and monitoring of disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51834","type":"journal-article","created":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T07:07:03Z","timestamp":1690009623000},"page":"1442-1455","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A comprehensive study of skeletal muscle imaging in <scp><i>FHL1<\/i><\/scp>\u2010related reducing body myopathy"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5313-9514","authenticated-orcid":false,"given":"Payam","family":"Mohassel","sequence":"first","affiliation":[{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7304-7411","authenticated-orcid":false,"given":"Pomi","family":"Yun","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safoora","family":"Syeda","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhinandan","family":"Batra","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy University of Florida  Gainesville FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Bradley","sequence":"additional","affiliation":[{"name":"Advanced Cardiovascular Imaging Laboratory NHLBI, NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"Monges","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda Hospital de Pediatr\u00eda J.P. 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