{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T01:42:01Z","timestamp":1770687721548,"version":"3.49.0"},"reference-count":24,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,4,6]],"date-time":"2023-04-06T00:00:00Z","timestamp":1680739200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Telethon Institute of Genetics and Medicine of Pozzuoli (NA)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscles"],"abstract":"<jats:p>We describe two cases of myofibrillar myopathies, due to different gene mutations. The first was a girl with cardiomyopathy and sensory axonal neuropathy that underwent cardiac transplantation at 15 years and suffers from rotatory scoliosis due to BAG3 mutation. The second is a male patient, with evident limb-girdle weakness since age 3. Two muscle biopsies were performed at ages 3 and 15, with muscle MRI, and LDB3 gene sequence analysis also carried out. Muscle biopsies revealed the presence of dystrophic changes in the first biopsy and myopathic abnormalities in the second, and the MRI images of the lower limbs showed an asymmetrical involvement in the thigh of quadriceps muscles and in the calf of gastrocnemius muscles. The patient was responsive to treatment with an intermittent steroid regimen and muscle-strengthening exercises. Considerations on both muscle\u2013bone interaction and psychological and socioeconomic conditions are carried out for both cases.<\/jats:p>","DOI":"10.3390\/muscles2020013","type":"journal-article","created":{"date-parts":[[2023,4,6]],"date-time":"2023-04-06T02:29:58Z","timestamp":1680748198000},"page":"177-186","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study"],"prefix":"10.3390","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9554-8794","authenticated-orcid":false,"given":"Corrado","family":"Angelini","sequence":"first","affiliation":[{"name":"Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Campus Biomedico Pietro d\u2019Abano, 35131 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5064-1672","authenticated-orcid":false,"given":"Chiara","family":"Ceolin","sequence":"additional","affiliation":[{"name":"Geriatrics, University of Padova, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3151-3151","authenticated-orcid":false,"given":"Alicia Aurora","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"Neuro-e-Motion Research Team, Faculty of Health Sciences, Department of Psychology, University of Deusto, Av. Universidades, 24, 48007 Bilbao, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine, University of Campania, 80078 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.nmd.2015.01.009","article-title":"BAG3 myofibrillar myopathy presenting with cardiomyopathy","volume":"25","author":"Konersman","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.nmd.2010.05.004","article-title":"Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation","volume":"20","author":"Odgerel","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ana.21553","article-title":"Mutation in BAG3 causes severe dominant childhood muscular dystrophy","volume":"65","author":"Selcen","year":"2009","journal-title":"Ann. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s10974-016-9451-7","article-title":"Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy","volume":"37","author":"Meregalli","year":"2016","journal-title":"J. Muscle Res. Cell Motil."},{"key":"ref_5","unstructured":"Dubowitz, V., and Brooke, M. (1973). Muscle Biopsy: A Modern Approach, Saunders."},{"key":"ref_6","first-page":"e128799","article-title":"Investigation of a dilated cardiomyopathy-associated variant inBAG3 using genome-edited iPSC-derived cardiomyocytes","volume":"4","author":"Lv","year":"2019","journal-title":"J. Clin. Investig."},{"key":"ref_7","first-page":"111","article-title":"Respiratory management of patients with neuromuscular disease: Current perspectives","volume":"6","author":"Pfeffer","year":"2016","journal-title":"Degener. Neurol. Neuromuscul. Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1002\/mus.880170405","article-title":"Deflazacort in Duchenne dystrophy: Study of long-term effect","volume":"17","author":"Angelini","year":"1994","journal-title":"Muscle Nerve Off. J. Am. Assoc. Electrodiagn. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/j.1399-0004.2011.01659.x","article-title":"BAG3-related myofibrillar myopathy in a Chinese family","volume":"81","author":"Lee","year":"2012","journal-title":"Clin. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1529-8027.2012.00409.x","article-title":"BAG3 mutations: Another cause of giant axonal neuropathy","volume":"17","author":"Jaffer","year":"2012","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s10974-015-9431-3","article-title":"BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome","volume":"36","author":"Suszek","year":"2015","journal-title":"J. Muscle Res. Cell Motil."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.ymgme.2018.01.001","article-title":"Dysregulated autophagy in re-restrictive cardiomyopathy due to Pro209Leu mutation in BAG3","volume":"123","author":"Rupp","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/mus.25631","article-title":"Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of bcl-2-associated athanogene-3 gene mutations even without cardiac involvement","volume":"57","author":"Noury","year":"2018","journal-title":"Muscle Nerve"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1007\/s00415-019-09680-8","article-title":"BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease","volume":"267","author":"Fu","year":"2020","journal-title":"J. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1016\/j.jacc.2018.08.2181","article-title":"Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations","volume":"72","author":"Cuenca","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.nmd.2010.12.007","article-title":"Myofibrillar myopathies","volume":"21","author":"Selcen","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"ref_17","first-page":"301","article-title":"A novel LDB3 (c. 1720G > A) mutation causes myofibrillar myopathy","volume":"26","author":"Li","year":"2021","journal-title":"Neurol. Asia"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1007\/s00401-014-1344-5","article-title":"Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency","volume":"128","author":"Ruparelia","year":"2014","journal-title":"Acta Neuropathol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s40478-014-0100-3","article-title":"MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples","volume":"2","author":"Savarese","year":"2014","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1080\/15548627.2020.1833500","article-title":"Metformin rescues muscle function in BAG3 myofibrillar myopathy models","volume":"17","author":"Ruparelia","year":"2021","journal-title":"Autophagy"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1016\/j.healthpol.2014.12.016","article-title":"Socio-economic burden of rare diseases: A systematic review of cost of illness evidence","volume":"119","author":"Angelis","year":"2015","journal-title":"Health Policy"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10198-016-0780-7","article-title":"Social\/economic costs and health-related quality of life in patients with rare diseases in Europe","volume":"17","year":"2016","journal-title":"Eur. J. Health Econ."},{"key":"ref_23","first-page":"200","article-title":"Traducci\u00f3n y validaci\u00f3n de la escala Individualized Neuromuscular Quality of Life para la poblaci\u00f3n espa\u00f1ola: Evaluaci\u00f3n de la calidad de vida para personas afectas de enfermedades neuromusculares","volume":"194","author":"Fagoaga","year":"2017","journal-title":"Rev. De Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1111\/j.1468-1331.2010.02992.x","article-title":"Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases","volume":"17","author":"Sansone","year":"2010","journal-title":"Eur. J. Neurol."}],"container-title":["Muscles"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2813-0413\/2\/2\/13\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:10:50Z","timestamp":1760123450000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2813-0413\/2\/2\/13"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,6]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,6]]}},"alternative-id":["muscles2020013"],"URL":"https:\/\/doi.org\/10.3390\/muscles2020013","relation":{},"ISSN":["2813-0413"],"issn-type":[{"value":"2813-0413","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,6]]}}}