{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T04:13:21Z","timestamp":1767845601820,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,10,30]],"date-time":"2009-10-30T00:00:00Z","timestamp":1256860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Laminopathies are a heterogeneous group of <jats:italic>LMNA<\/jats:italic>\u2010gene\u2010mutation\u2013related clinical disorders associated with alterations of cardiac and skeletal muscle and peripheral nerves, metabolic defects, and premature aging. Leg muscle imaging investigations were performed in a cohort of patients with <jats:italic>LMNA<\/jats:italic> gene alterations who were suffering from Emery\u2013Dreifuss muscular dystrophy, limb\u2010girdle muscular dystrophy type 1B, isolated cardiac disorders or a phenotype of cardiac disorders, and lipodystrophy, including one individual with peripheral neuropathy. Leg muscle imaging revealed varying degrees of alteration in the soleus and medial head of gastrocnemius in each subject. This study demonstrates that <jats:italic>LMNA\u2010<\/jats:italic>gene\u2010mutated patients devoid of any clinically detectable skeletal muscle involvement have the same pattern of leg muscle involvement as patients with overt skeletal muscle compromise. This finding suggests the presence of a continuum of skeletal muscle involvement among phenotypes of <jats:italic>LMNA\u2010<\/jats:italic>gene\u2010mutation\u2013related skeletalmyopathy and cardiomyopathy. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21514","type":"journal-article","created":{"date-parts":[[2009,10,30]],"date-time":"2009-10-30T14:33:15Z","timestamp":1256913195000},"page":"458-463","source":"Crossref","is-referenced-by-count":39,"title":["Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by <i>LMNA<\/i> gene mutations"],"prefix":"10.1002","volume":"41","author":[{"given":"Nicola","family":"Carboni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Mura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Marrosu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Cocco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Marini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Solla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Mateddu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Antonietta","family":"Maioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachele","family":"Piras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Mallarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Mercuro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Porcu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Giovanna","family":"Marrosu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,30]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1050-1738(01)00126-8"},{"key":"e_1_2_5_3_2","first-page":"48","volume-title":"Structural and molecular basis of skeletal muscle diseases","author":"Bonne G","year":"2002"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.10.018"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.046110"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013383"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20359"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00447.x"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000261254.87181.80"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.wco.0000183947.01362.fe"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-23593"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.01.009"},{"key":"e_1_2_5_13_2","series-title":"A laboratory manual","first-page":"20","volume-title":"Molecular cloning","author":"Sambrook J","year":"1989"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)85424-8"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199912023412302"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004356-198406000-00005"},{"key":"e_1_2_5_17_2","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1053\/ejpn.2002.0617","article-title":"A short protocol for muscle MRI in children with muscular dystrophies","volume":"6","author":"Mercuri E","year":"2002","journal-title":"Eur J Neurol"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2006.08.012"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20879"},{"key":"e_1_2_5_20_2","article-title":"Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement","author":"Carboni N","journal-title":"Muscle Nerve"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1054\/jcaf.2001.26339"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.20804"}],"container-title":["Muscle &amp; 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