Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology最新文献

{"title":"Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders.","authors":"Andi Nuredini, Marco Savarese, Filippo Maria Santorelli, Rossella Ginevra Tupler","doi":"10.36185/2532-1900-927","DOIUrl":"10.36185/2532-1900-927","url":null,"abstract":"<p><p>Artificial Intelligence (AI) is the ability of machines to perform tasks that typically require human intelligence, such as learning, problem-solving, and decision-making. Its integration into healthcare may revolutionize many areas of medicine, including the diagnosis and management of neuromuscular disorders (NMDs).</p><p><p>These disorders, characterized by their clinical and genetical complexity and heterogeneity, demand innovative approaches to improve patient outcomes. Among these approaches, AI-driven solutions hold immense potential. However, the success of these solutions depends on preparing a new generation of clinicians equipped to harness the multifaceted power of AI.</p><p><p>One remarkable initiative addressing this need is the CoMPaSS-NMD project, which pioneers an interdisciplinary framework for developing AI-driven strategies to stratify patients using multiple clinical, histopathological, MRI e genetic datasets. By fostering a shared working language and integrating diverse competencies, the project aims to advance knowledge dissemination and bridge gaps between traditional disciplines. This approach is vital for addressing the challenges posed by NMDs, where early diagnosis and personalized treatment plans are critical.</p><p><p>To support this mission, the Young Investigator Training (YIT) initiative within CoMPaSS-NMD fosters education and scientific exchange among early-career researchers. By promoting high-quality clinical assessments and multidisciplinary training, YIT prepares a new generation to meet the evolving challenges in NMD care and research.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"62-66"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study.","authors":"Naman Bareja, Brinda Desai, Michal Vytopil, Jayashri Srinivasan, Mehdi Ghasemi","doi":"10.36185/2532-1900-997","DOIUrl":"10.36185/2532-1900-997","url":null,"abstract":"<p><strong>Objectives: </strong>Some muscular dystrophies, such as myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD), are caused by genetic mutations that may affect the expression and function of various cancer-related genes. We assessed the frequency and type of cancers and benign tumors in patients with DM1, DM2, FSHD, and OPMD.</p><p><strong>Methods: </strong>We conducted a single-center, retrospective, cross-sectional study on patients with DM1, DM2, FSHD, and OPMD at our institution from January 2000 to September 2023.</p><p><strong>Results: </strong>Seventy seven (46 female) DM1, 20 (15 female) DM2, 40 (18 female) FSHD, and 46 (22 female) OPMD patients were included, among which 22 (28.57%), 9 (45%), 7 (17.5%), and 15 (32.61%) patients had at least one cancer, respectively. Median age (range) of patients where presence or absence of cancer was ascertained was 65 (18-87), 63.5 (45-86), 61 (27-83), and 71.5 (40-82) years, respectively (P < 0.0001). Overall, non-sex-related cancers were more frequent than sex-related cancers among all patients together. Independent to sex and age, DM1 patients had an increased risk of non-sex-related cancers compared to non-DM cases. Melanoma (P < 0.01) and testicular (P < 0.05) cancers were significantly more frequent in DM2 and OMPD patients, respectively. DM patients had also increased risk of non-sex related benign tumors (including skin and thyroid benign tumors) compared to non-DM patients.</p><p><strong>Conclusions: </strong>Our study highlights the differences in the prevalence of cancers and benign tumors among patients with DM1, DM2, FSHD, and OPMD, underscoring the potential need for regular screening for specific cancers.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"49-56"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.","authors":"Wilmer Santiago Herrera Malpica, Jully C Gómez, Fernando Ortiz-Corredor, Paula Vanessa Muñetones Hernández, Cristian Correa-Arrieta","doi":"10.36185/2532-1900-1028","DOIUrl":"10.36185/2532-1900-1028","url":null,"abstract":"<p><strong>Introduction: </strong>Bethlem myopathy (BM) is a collagen-VI-related myopathy caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by proximal muscle weakness, distal joint laxity, and contractures, with symptoms appearing during childhood and progressing slowly. Muscle ultrasound, using tools like the Heckmatt scale, complements genetic analysis and provides noninvasive insights into muscle pathology, particularly in atypical presentations.</p><p><strong>Case report: </strong>An 8-year-old male presented with muscle weakness since birth, delayed motor milestones, toe walking, and frequent falls. Family history revealed maternal-line neuromuscular disorders. Clinical examination showed hyporeflexia, thoracic hypotrophy, and decreased proximal muscle strength, alongside joint hypermobility and keratosis pilaris. Electromyography indicated a myopathic pattern in proximal upper limb muscles. Genetic analysis confirmed a pathogenic COL6A1 variant (c.788G > A, p.Gly263Asp). Ultrasound findings revealed advanced structural compromise with Heckmatt grade IV echogenicity in the deltoid, iliopsoas, and rectus femoris, indicating fatty infiltration and fibrosis. Functional tests, including Motor Function Measurement (MFM), showed adequate performance despite significant structural abnormalities.</p><p><strong>Discussion: </strong>This case illustrates the diagnostic challenges of BM, characterized by phenotypic variability and the complexity of correlating structural and functional findings. Muscle ultrasound findings demonstrated advanced echogenic changes, but functional performance remained preserved, highlighting a mismatch between structural changes and functional outcomes.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic challenges of BM, where a patient with a COL6A1 gene mutation exhibited significant muscle abnormalities on ultrasound but maintained relatively preserved motor function according to the MFM scale. This discrepancy emphasizes the limitations of functional assessments like MFM in capturing the extent of muscle weakness. Ultrasound and dynamometry provided a more comprehensive evaluation, underscoring the importance of integrating structural and functional assessments for accurate diagnosis and management. This case stresses the need for an individualized approach in managing BM, considering both genetic and clinical findings.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"57-61"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report.","authors":"Giulio Gadaleta, Stefano Pidello, Guido Urbano, Diana Carli, Tiziana Mongini","doi":"10.36185/2532-1900-787","DOIUrl":"10.36185/2532-1900-787","url":null,"abstract":"<p><strong>Case presentation: </strong>A 34-year-old male with congenital clubfoot, post-exertional rhabdomyolysis, and a family history of sudden cardiac death in mid-life was evaluated for a severe rhabdomyolysis requiring multiple hemodialyses. Clinical evaluation showed mild distal myopathy signs, with CK levels around 3000 IU/L and muscle biopsy revealing desmin- and dystrophin-positive cytosolic protein aggregates/fibre splitting. After a minor SARS-CoV-2 infection at 55, modest signs of cardiomyopathy were observed via cardiac MRI, without patterns indicative of myocarditis. Subsequently, NGS analysis identified a variant in the LDB3 gene, potentially correlated with the clinical-histological-radiological picture, thus broadening the phenotypic spectrum of LDB3-related distal myopathies. Additionally, a possible link was suggested between the viral infection and the exacerbation of the otherwise subtle cardiomyopathy. In the context of hyperCKemia and positive family history for unexplained cardiac abnormalities, broad-spectrum NGS testing, and cardiac MRI in selected cases, should be considered for timely diagnosis and interventions.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"77-80"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychological aspects in neuromuscular patients: case series.","authors":"Raffaella Manzo, Anna Annunziata, Cecilia Calabrese, Antonella Marotta, Giuseppe Fiorentino","doi":"10.36185/2532-1900-1168","DOIUrl":"10.36185/2532-1900-1168","url":null,"abstract":"<p><p>The management of patients with neuromuscular diseases requires a multidisciplinary approach that integrates medical care with targeted psychological support. Respiratory difficulties, often treated with non-invasive ventilation (NIV) are accompanied by mood disorders such as anxiety and depression, which can compromise treatment adherence and quality of life. In our Unit, we performed psychological assessment from the first visit, using the Beck Depression Inventory-II (BDI-II) scale to evaluate the patients, and initiate where necessary, psychological support, also via telemedicine.</p><p><p>We present four representative clinical cases including Giovanni, with Bethlem myopathy who exhibited resistance to NIV linked to feelings of anger and frustration; Luisa, with Steinert's disease who experienced relational rejection that undermined her self-esteem; Maria, also with Steinert's disease who expressed anticipatory anxiety over the loss of autonomy; and Lorenzo, with Duchenne muscular dystrophy who faced social isolation and resistance to ventilation by finding confort in music.</p><p><p>In all cases, psychological support led to reduced BDI scores and an improvement in treatment adherence. These results highlight the clinical efficacy of structured psychological integration within multidisciplinary teams. However, scientific literature still needs more controlled studies to confirm these results. We emphasize the importance of a holistic approach that equally takes into account the physical and psychological health of patients with neuromuscular diseases.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"67-72"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies.","authors":"Elisa Schena, Antonella Pini, Paola Cavalcante, Gabriele Siciliano, Giulia Ricci","doi":"10.36185/2532-1900-1126","DOIUrl":"10.36185/2532-1900-1126","url":null,"abstract":"<p><p>Emery-Dreifuss Muscular Dystrophy type 2 (EDMD2) and LMNA-related congenital muscular dystrophy (L-CMD) are caused by mutations in LMNA gene. Both pathologies are characterized by joint contractures, muscle weakness and wasting and cardiac involvement. In the last few years, circulating factors have been proposed to play a critical role in the pathogenesis of these diseases. Based on this consideration, we studied the effect of laminopathic serum on the myogenic differentiation in healthy human myoblasts in culture. We observed impaired myogenesis and increased fibrosis in myoblast cultures conditioned with laminopathic serum and a dramatic increase in the level of profibrotic and proinflammatory cytokines in the cell culture supernatants. These results strongly support the pathogenic role of circulating factors in muscular laminopathies and pave the way to a possible therapeutic strategy.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 2","pages":"73-76"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12250584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacological therapy of non-dystrophic myotonias.","authors":"Ilaria Saltarella, Paola Laghetti, Simone Dell'Atti, Concetta Altamura, Jean-François Desaphy","doi":"10.36185/2532-1900-1026","DOIUrl":"10.36185/2532-1900-1026","url":null,"abstract":"<p><strong>Objectives: </strong>Non-dystrophic myotonias (NDM) are rare diseases due to mutations in the voltage-gated sodium (Nav1.4) and chloride (ClC-1) channels expressed in skeletal muscle fibers. We provide an up-to-date review of pharmacological treatments available for NDM patients and experimental studies aimed at identifying alternative treatments and at better understanding the mechanisms of actions.</p><p><strong>Methods: </strong>Literature research was performed using PubMed and ClinicalTrial.gov.</p><p><strong>Results: </strong>Today, the sodium channel blocker mexiletine is the drug of choice for treatment of NDM. Alternative drugs include other sodium channel blockers and the carbonic anhydrase inhibitor acetazolamide. Preclinical studies suggest that activators of ClC-1 channels or voltage-gated potassium channels may have antimyotonic potential.</p><p><strong>Conclusions: </strong>An increasing number of antimyotonic drugs would help to design a precision therapy to address personalized treatment of myotonic individuals.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 1","pages":"23-27"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of Pompe disease alongside and beyond ERT: a narrative review.","authors":"Barbara Risi, Filomena Caria, Enrica Bertella, Giorgia Giovanelli, Simonetta Gatti, Loris Poli, Stefano Gazzina, Ugo Leggio, Virginia Bozzoni, Irene Volonghi, Nesaiba Ait Allali, Elisa Ottelli, Elisabetta Ferrari, Anna Marrello, Giulia Ricci, Gabriele Siciliano, Alessandro Padovani, Massimiliano Filosto","doi":"10.36185/2532-1900-1106","DOIUrl":"10.36185/2532-1900-1106","url":null,"abstract":"<p><strong>Background: </strong>Pompe disease is a lysosomal storage disorder that primarily affects muscles, and its natural history has been transformed over the past 20 years by therapies designed to restore the deficient enzyme function, from the first enzyme replacement therapies (ERTs) to the gene therapy currently in development. However, despite these ground-breaking innovations, the importance of a multi-system and rehabilitative approach remains critical, as it addresses the complex systems involved in the disease and optimizes the success of pharmacological treatments.</p><p><strong>Methods: </strong>We conducted a narrative review of the current pharmacological treatments approved for Pompe disease, as well as those undergoing clinical trials. We also reviewed international recommendations for managing respiratory, musculoskeletal, and cardiac function specially focusing on the late-onset form.</p><p><strong>Results: </strong>There are no universally agreed guidelines for the multidisciplinary management and many recommendations are based on expert consensus and small interventional studies. Nevertheless, combined approaches involving ERT therapy along with specific rehabilitation and nutritional programs appear to yield beneficial effects.</p><p><strong>Conclusions: </strong>Pompe disease, one of the first neuromuscular diseases to benefit from the approval of disease-modifying therapies, is a paradigm for the importance of an integrated therapeutic-rehabilitative approach.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 1","pages":"11-22"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Females with X-Linked Muscle Disorders: an underestimated patient population.","authors":"Luisa Politano","doi":"10.36185/2532-1900-1096","DOIUrl":"10.36185/2532-1900-1096","url":null,"abstract":"<p><p>Carriers of genetic diseases including female carriers of X-linked disorders are traditionally believed to be asymptomatic due to the compensatory presence of the unmutated gene on the other allele. However, in recent decades numerous contributions have appeared in the literature showing how females carrying X-linked diseases can also present signs and symptoms linked to the specific gene defect. To explain the clinical manifestations observed in female carriers, several mechanisms leading to a reduced protein expression have been hypothesized, in particular the role of the X-chromosome inactivation (XCI). In this review, the focus will be on the relationship between skewed XCI and the development of muscle or cardiac symptoms in female carriers of the most frequent types of muscle disorders such as Duchenne and Becker muscular dystrophies, Emery-Dreifuss muscular dystrophy and Myotubular Myopathy. In all cases, there is a tendency for females with a more severe phenotype to have a skewed pattern of XCI, while females with an intermediate phenotype have a random pattern. Given the increasing recognition of important clinical presentations in females with X-linked muscle disorders and the recent availability of causal therapies for these diseases, specific guidelines are desirable and recommended that allow women to be properly recognized and have access to appropriate therapies.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 1","pages":"33-36"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now?","authors":"Francesca Torri, Beatrice Ciurli, Mariaconcetta Rende, Arianna Votta, Emanuele Mocciaro, Frida Karakashi, Matteo Lencioni, Elisabetta Ferraro, Massimiliano Filosto, Davide Gabellini, Gabriele Siciliano, Giulia Ricci","doi":"10.36185/2532-1900-1047","DOIUrl":"10.36185/2532-1900-1047","url":null,"abstract":"<p><strong>Objectives: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disorder characterized by progressive muscle weakness, especially in the face, shoulders, and upper limbs. Despite extensive research, the underlying pathogenesis and clinical variability remain incompletely understood. This review aims to summarize recent advances in FSHD research, focusing on genetic and epigenetic factors and the potential for precision medicine.</p><p><strong>Methods: </strong>A comprehensive review of recent literature was conducted, examining molecular mechanisms such as mutations in the D4Z4 region, DUX4 expression, RNA interference (RNAi) and antisense oligonucleotides (AOs). Clinical variability was analyzed to assess different disease phenotypes. Clinical trials investigating potential treatments, especially those targeting DUX4, were also reviewed.</p><p><strong>Results: </strong>FSHD shows significant clinical variability, with different progression rates across phenotypes. The 4qA allele is linked to more typical forms of the disease, but epigenetic factors, including DNA methylation and miRNA expression, also influence disease severity. Despite progress, the exact molecular mechanisms driving disease expression remain unclear. Clinical trials, such as Losmapimod, show promise in slowing muscle degeneration, though results remain inconsistent.</p><p><strong>Conclusions: </strong>FSHD presents significant challenges for therapy development due to its genetic complexity and clinical variability. Ongoing research is needed to clarify pathogenesis and identify reliable biomarkers. Future therapeutic strategies should focus on precision medicine, integrating genetic, clinical, and imaging data to optimize patient stratification and treatment efficacy.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 1","pages":"2-10"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}