{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:14:14Z","timestamp":1760148854428,"version":"build-2065373602"},"reference-count":17,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T00:00:00Z","timestamp":1686182400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers. Clinical case: a 22-year-old male patient with symptoms of muscle weakness since early childhood, with difficulty in performing physical activity according to his age, with the presence of a long face, a waddling gait, and a global decrease in muscle mass. Electromyography was performed, showing a neurogenic pattern and not the expected myopathic one, neuroconduction with reduced amplitude of the motor potential of the peroneal nerve and axonal and myelin damage of the posterior tibial nerves. The microscopic study of the studied striated muscle fragments stained with hematoxylin\u2013eosin and Masson\u2019s trichrome showed the presence of fibers with central nuclei, diagnosing CM. The patient meets most of the description for CM, with involvement of all striated muscles, although it is important to note the neurogenic pattern present in this case, due to the denervation of damaged muscle fibers, which contain terminal axonal segments. Neuroconduction shows the involvement of motor nerves, but with normal sensory studies, axonal polyneuropathy is unlikely, due to normal sensory potentials. Different pathological findings have been described depending on the mutated gene in this disease, but all coincide with the presence of fibers with central nuclei for diagnosis by this means, which is so important in institutions where it is not possible to carry out genetic studies, and allowing early specific treatment, according to the stage through which the patient passes.<\/jats:p>","DOI":"10.3390\/medicina59061112","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T01:32:34Z","timestamp":1686274354000},"page":"1112","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Possible Case of Centronuclear Myopathy: A Case Report"],"prefix":"10.3390","volume":"59","author":[{"given":"Narjara","family":"Castillo-Ferr\u00e1n","sequence":"first","affiliation":[{"name":"\u201cComandante Manuel Fajardo\u201d Teaching Surgical Clinical Hospital, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Mario","family":"Junco-Rodriguez","sequence":"additional","affiliation":[{"name":"Institute of Tropical Medicine \u201cPedro Kouri\u201d, Havana 11400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zurina","family":"Lestayo-O\u2019Farrill","sequence":"additional","affiliation":[{"name":"Institute of Neurology and Neurosurgery, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda de los Angeles","family":"Robinson-Agramonte","sequence":"additional","affiliation":[{"name":"Department of Immunochemical, International Center for Neurological Restoration, Habana 11300, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoilo","family":"Camejo-Le\u00f3n","sequence":"additional","affiliation":[{"name":"Institute of Neurology and Neurosurgery, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9ctor Jes\u00fas","family":"G\u00f3mez-Su\u00e1rez","sequence":"additional","affiliation":[{"name":"Institute of Neurology and Neurosurgery, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"Salinas-Olivares","sequence":"additional","affiliation":[{"name":"Institute of Neurology and Neurosurgery, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyn","family":"Antiguas-Valdez","sequence":"additional","affiliation":[{"name":"\u201cAngel Arturo Aball\u00ed\u201d Hospital, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Falc\u00f3n-Lamazares","sequence":"additional","affiliation":[{"name":"\u201cComandante Manuel Fajardo\u201d Teaching Surgical Clinical Hospital, Havana 10400, Cuba"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3779-2596","authenticated-orcid":false,"given":"Dario","family":"Siniscalco","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Division of Molecular Biology, Biotechnology and Histology, University of Campania, 80138 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,8]]},"reference":[{"key":"ref_1","first-page":"82","article-title":"Diagnotico y tratamiento de las miopat\u00edas cong\u00e9nitas","volume":"79","author":"Ortez","year":"2019","journal-title":"Medicina"},{"key":"ref_2","unstructured":"Zarranz Imirizaldu, J.J. 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