{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:47:37Z","timestamp":1767829657204,"version":"3.49.0"},"reference-count":13,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A\/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2. We report a 13-year-old boy with mild limb girdle muscle weakness, elbow and ankle contractures, with absence of emerin at muscle biopsy, carrying a hemizygous frameshift mutation on the EMD gene (c.153dupC\/p.Ser52Glufs*9) of maternal inheritance. Minor cardiac rhythm abnormalities were detected at 24-hour Holter electrocardiogram and required \u03b2-blocker therapy. MRI scan of the thighs showed a mild diffuse involvement, while tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius were the most affected muscles in the leg. We also provide a review of the muscular MRI data in EDMD patients and highlight the relative heterogeneity of the MRI patterns found in EDMDs, suggesting that muscle MRI should be studied in larger EDMD cohorts to better define disease patterns and to cover the wide disease spectrum.<\/jats:p>","DOI":"10.1055\/s-0043-1768989","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T23:08:13Z","timestamp":1685574493000},"page":"426-429","source":"Crossref","is-referenced-by-count":1,"title":["Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1"],"prefix":"10.1055","volume":"54","author":[{"given":"Chiara","family":"Panicucci","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Casalini","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Traverso","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noemi","family":"Brolatti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Baratto","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lizzia","family":"Raffaghello","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Pedemonte","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Doglio","sequence":"additional","affiliation":[{"name":"Physical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Derchi","sequence":"additional","affiliation":[{"name":"Cardiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"Neurology Unit, IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrice M.","family":"Damasio","sequence":"additional","affiliation":[{"name":"Radiology Department, IRCCS Istituto Giannina Gaslini, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,5,31]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mus.26782","article-title":"Emery-Dreifuss muscular dystrophy","volume":"61","author":"S A Heller","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"8812044","DOI":"10.1155\/2021\/8812044","article-title":"Echocardiographic features of cardiomyopathy in Emery-Dreifuss muscular dystrophy","volume":"2021","author":"M Marchel","year":"2021","journal-title":"Cardiol Res Pract"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1536\/ihj.17-604","article-title":"Cardiac involvement in Emery-Dreifuss muscular dystrophy and related management strategies","volume":"60","author":"S Wang","year":"2019","journal-title":"Int Heart J"},{"issue":"10","key":"ref4","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1016\/j.hrthm.2022.04.022","article-title":"2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders","volume":"19","author":"W J Groh","year":"2022","journal-title":"Heart Rhythm"},{"issue":"09","key":"ref5","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/j.nmd.2022.07.397","article-title":"Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study","volume":"32","author":"G Yunisova","year":"2022","journal-title":"Neuromuscul Disord"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1093\/hmg\/ddt494","article-title":"Recessive TTN truncating mutations define novel forms of core myopathy with heart disease","volume":"23","author":"C Chauveau","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"24","key":"ref7","doi-asserted-by":"crossref","first-page":"2126","DOI":"10.1212\/WNL.0000000000002200","article-title":"A new titinopathy: childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy","volume":"85","author":"R De Cid","year":"2015","journal-title":"Neurology"},{"issue":"01","key":"ref8","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1055\/s-2002-23593","article-title":"Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"33","author":"E Mercuri","year":"2002","journal-title":"Neuropediatrics"},{"issue":"09","key":"ref9","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/j.nmd.2019.06.009","article-title":"X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures","volume":"29","author":"M Brisset","year":"2019","journal-title":"Neuromuscul Disord"},{"issue":"07","key":"ref10","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1001\/archneur.64.7.1038","article-title":"Limb-girdle muscular dystrophy due to emerin gene mutations","volume":"64","author":"S Ura","year":"2007","journal-title":"Arch Neurol"},{"issue":"03","key":"ref11","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/sj.ejhg.5200744","article-title":"Emery-Dreifuss muscular dystrophy","volume":"10","author":"A Helbling-Leclerc","year":"2002","journal-title":"Eur J Hum Genet"},{"issue":"01","key":"ref12","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.nmd.2015.10.001","article-title":"Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes","volume":"26","author":"J D\u00edaz-Manera","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"05","key":"ref13","doi-asserted-by":"crossref","first-page":"649","DOI":"10.3233\/JND-220823","article-title":"Muscle MRI as a diagnostic challenge in Emery-Dreifuss muscular dystrophy","volume":"9","author":"M J Pinto","year":"2022","journal-title":"J Neuromuscul Dis"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1768989.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T23:37:20Z","timestamp":1699918640000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1768989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,31]]},"references-count":13,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2023,11,13]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1768989","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,31]]}}}