Journal of neuromuscular diseases最新文献

{"title":"Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC).","authors":"Masanobu Kinoshita, Masaomi Yamamoto, Ryuichi Machida, Masahiro Misawa, Shinichiro Yabe, Norihito Yoshida, Akihiko Kikuchi, Hikoaki Fukaura, Kenichi Kaida, Kinji Ohno","doi":"10.1177/22143602251329168","DOIUrl":"10.1177/22143602251329168","url":null,"abstract":"<p><p>Four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) developed devastating painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after 20 weeks of gestation. Immediately after delivery, painful muscle stiffness completely disappeared and the CK levels returned to the baseline. In a patient with DM1, muscle biopsy at delivery and skeletal muscle MRI in six days after delivery showed inflammatory changes, which disappeared in MRI on postpartum day 41. Pregnancy-associated aggravation of myotonia has been reported in myotonic disorders, but painful muscle stiffness has been scarcely reported. Inactivation of muscle Cl channel by progesterone that is prominently increased in the middle phase of gestation is likely to be the underlying mechanism of the pregnancy-associated painful muscle stiffness in myotonic disorders.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"558-566"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other <i>VMA21</i>-related disorders.","authors":"Ilaria Cocchiararo, Perrine Castets","doi":"10.1177/22143602251314767","DOIUrl":"10.1177/22143602251314767","url":null,"abstract":"<p><p>X-linked myopathy with excessive autophagy (XMEA) is a rare neuromuscular disorder caused by mutations in the <i>VMA21</i> gene, encoding a chaperone protein present in the endoplasmic reticulum (ER). In yeast and human, VMA21 has been shown to chaperone the assembly of the vacuolar (v)-ATPase proton pump required for the acidification of lysosomes and other organelles. In line with this, VMA21 deficiency in XMEA impairs autophagic degradation steps, which would be key in XMEA pathogenesis. Recent years have witnessed a surge of interest in <i>VMA21</i>, with the identification of novel mutations causing a congenital disorder of glycosylation (CDG) with liver affection, and its potent implication in cancer predisposition. With this, VMA21 deficiency has been further linked to defective glycosylation, lipid metabolism dysregulation and ER stress. Moreover, the identification of two VMA21 isoforms, namely VMA21-101 and VMA21-120, has opened novel avenues regarding the pathomechanisms leading to XMEA and <i>VMA21</i>-CDG. In this review, we discuss recent advances on the clinical spectrum associated with VMA21 deficiency and on the pathophysiological roles of VMA21.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"443-462"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143541302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.","authors":"S Colombo, B S Cowling, L Eyler, D Nijkamp, C Freitag, L Thielemans, K Bouman, J Baets, J Vissing, R Quinlivan, M Guglieri, F Montagnese, U Schara-Schmidt, A Dhawan, M W Lawlor, N C Voermans","doi":"10.1177/22143602251329215","DOIUrl":"10.1177/22143602251329215","url":null,"abstract":"<p><strong>Background: </strong>Centronuclear myopathies represent a subset of debilitating genetic disorders, for which no treatment exists. The Unite-CNM trial (NCT04033159) aimed to assess the effect of an antisense oligonucleotide to reduce <i>DNM2</i> mRNA expression in X-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM).</p><p><strong>Objective: </strong>The trial was discontinued due to tolerability concerns (hepatic and hematological). This report aims to provide an overview of hepatic involvement in XLMTM and ADCNM adults.</p><p><strong>Methods: </strong>The medical history and prospective liver imaging and liver function test results at screening and baseline were assessed. Furthermore, DNM2 protein expression in livers of four other pediatric patients with XLMTM and of healthy children and adults were assessed.</p><p><strong>Results: </strong>Twenty-six patients were screened; 15 with <i>DNM2</i> mutations (median age 36 years; six females), and 11 with <i>MTM1</i> mutations (median age 52 years; five females). Overall, six patients had a history of liver disease (6/19;31.6%). One patient with XLMTM had elevated serum alanine transaminase and another XLMTM patient had elevated serum gamma glutamyl transpeptidase. Liver ultrasound showed no features of peliosis hepatis. Liver steatosis was observed in three ADCNM patients and two XLMTM patients. The Fibroscan CAP score was above normal range in three XLMTM patients, and borderline or normal in other patients. The histopathology study showed that DNM2 protein levels in human liver decrease with age and are lower in pediatric individuals with XLMTM compared to controls.</p><p><strong>Conclusions: </strong>This study provides an overview of hepatic involvement in a large group of ADCNM and XLMTM patients. Findings suggest an underlying liver pathology may impact tolerability of therapeutic approaches, and will be important to consider for future trial design and clinical management. The results of DNM2 protein expression warrant further investigations on the role of DNM2 in the liver if it is to be used as a therapeutic target.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"497-512"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring self-management of diet and physical activity in <i>CACNA1S</i>-related hypokalemic periodic paralysis: A qualitative interview study.","authors":"Natasha Lervaag Welland, Benedicte Hagen Venås, Mari Ellefsen-Martinsen, Hanne Ludt Fossmo, Andreas Dybesland Rosenberger, Helene Dahl, Kristin Ørstavik, Marianne Nordstrøm","doi":"10.1177/22143602251342400","DOIUrl":"10.1177/22143602251342400","url":null,"abstract":"<p><strong>Background: </strong>Hypokalemic Periodic Paralysis (HypoPP) is a rare genetic neuromuscular disorder characterized by attacks of skeletal muscle weakness or paralysis with spontaneous recovery. The attacks are frequently triggered by specific factors, and previous studies have identified certain associated lifestyle factors, such as dietary intake and physical activity. However, there is currently no in-dept knowledge on how patients experience and self-manage triggering factors in their everyday life.</p><p><strong>Objective: </strong>In this study, we aimed to explore patients' experiences with dietary intake and physical activity through semi-structured interviews. The research question was: Which strategies do individuals with HypoPP utilize in relation to dietary intake and physical activity to prevent or self-manage attacks of muscle weakness and paralysis?</p><p><strong>Methods: </strong>The study included 14 participants aged 21-58 years with HypoPP due to abnormalities in calcium channel function caused by pathogenic variants in the <i>CACNA1S</i> gene. The interviews were transcribed and analysed using Malterud's systematic text condensation.</p><p><strong>Results: </strong>The participants experienced that regular meals with controlled portions of complex carbohydrates, limited intake of simple carbohydrates, engaging in regular mild to moderate exercise combined with warm-up and cool-down, and avoiding physical inactivity made them less vulnerable to attacks of muscle weakness and paralysis. Furthermore, participants highlighted the cumulative effect of triggers, by consistently reporting feeling more susceptible to attacks when exposed to multiple triggers simultaneously.</p><p><strong>Conclusions: </strong>The participants experienced self-management through dietary modifications and adjustments in physical activity to reduce symptoms in <i>CACNA1S</i>-related HypoPP. A novel finding was the experienced cumulative effect of lifestyle-related triggering factors.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"548-557"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Signs and symptoms of carriers of non-<i>DMD</i> X-linked neuromuscular diseases: A scoping review.","authors":"Job Simons, Amanda Dekker, Rosanne Govaarts, Anna Sarkozy, Christian Windpassinger, Saskia Houwen, Nicol Voermans","doi":"10.1177/22143602251330441","DOIUrl":"10.1177/22143602251330441","url":null,"abstract":"<p><strong>Background: </strong>It has been known for long that females carrying pathogenic variants in the <i>DMD</i> gene often report symptoms and/or exhibit signs of the disease. However, a notable knowledge gap exists concerning the signs and symptoms of female carriers of other X-linked neuromuscular diseases (XLNMDs).</p><p><strong>Objective: </strong>This scoping review aims to provide a comprehensive outline of existing literature regarding the signs and symptoms of carriers of non-<i>DMD</i> XLNMDs to raise awareness among both researchers and clinicians.</p><p><strong>Methods: </strong>Three electronic databases were used for the literature search (PubMed, Embase, Web of Science). Studies on the signs and symptoms of carriers of non-<i>DMD</i> XLNMDs were included.</p><p><strong>Results: </strong>We included 44 articles for this review with a total of 354 carriers of non-<i>DMD</i> XLNMDs (mean age 43.9 years, std. deviation 17.4). Muscular signs and symptoms were reported for 125 carriers (X-linked myotubular myopathy (XLMTM): n = 96 (65%); Kennedy's disease (KD): n = 25 (32%); X-linked recessive Charcot-Marie-Tooth disease (CMTXR): n = 2 (15%); Uruguay faciocardiomusculoskeletal syndrome (FCMSU): n = 1 (33%); Barth syndrome (BS): n = 1 (100%)). In terms of ancillary investigations, abnormalities in histopathology and imaging were the most frequent with 44 carriers having abnormalities found by these testing (XLMTM: n = 36 (24%); Emery-Dreifuss muscular dystrophy 1 (EDMD1): n = 4 (5%); KD: n = 4 (5%) / XLMTM: n = 18 (12%); EDMD1: n = 1 (1%); KD: n = 5 (6%); X-linked myopathy with postural muscle atrophy (XMPMA): n = 19 (83%); BS: n = 1 (100%)). A difference between the number of EDMD1 carriers with cardiovascular signs and symptoms (n = 2 (1%)) and the number of carriers with abnormal electrocardiography tests (n = 20 (23%)) was also noted.</p><p><strong>Conclusion: </strong>Carriers of non-<i>DMD</i> XLNMDs exhibit a variety of signs and symptoms that could impact quality of life, making it vital for clinicians to be aware of these patients.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"473-486"},"PeriodicalIF":3.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study.","authors":"Sylvia Nieuwenhuis, Denys Kozakov, Kasia Kapusta, Geneviève Gourdon, Jeffrey C Glennon","doi":"10.1177/22143602251339350","DOIUrl":"10.1177/22143602251339350","url":null,"abstract":"<p><p>BackgroundCognitive changes in type 1 myotonic dystrophy (DM1) have a pronounced negative effect on quality of life measures. Despite this, the neural basis of these changes is poorly understood. DM1 patients demonstrate deficits in motivation and cognitive flexibility, reflective of apathy and obsessive-compulsive / autistic-like traits.ObjectiveThese traits can be readily assessed using reversal learning and appetitive extinction tasks. Reversal learning assesses the ability to learn following a change in a rule and can evaluate cognitive flexibility and habitual responding, while appetitive extinction assesses the ability to suppress a stimulus-action response following the change in the stimulus-reward relationship from rewarded to non-rewarded.MethodsIn this study we evaluated the performance of a mouse model of DM1, the DMSXL mouse in reversal learning and appetitive extinction tasks.ResultsSimilar to C57/BL6 wild type (WT) mice, DMSXL mice were able to learn stimulus reward relationships, however, in the late phase of reversal learning experiment DMSXL mice demonstrated increased habit-like behavior (increased number of correct responses). Following rule switching, DMSXL mice produced an increased number of errors compared to WT and showed increased latency to deliver correct responses. In the extinction task, DMSXL mice showed the ability to more rapidly extinguish a previously rewarded response than WT mice.ConclusionsThese findings constitute differences in cognitive flexibility, rule learning and motivation between DMSXL and WT mice which may inform our understanding of cognitive changes in DM1.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"535-547"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the spectrum of <i>TNNC2</i> variants in neonatal hypotonia - a family report of a homozygous loss of function.","authors":"Anthony Maino, Marie Chevallier, Diane Giovannini, Mandy Leger, Anne-Laure Coston, Nathalie Roux-Buisson, Hervé Testard, Julien Thevenon, Isabelle Marty, Julien Fauré, Klaus Dieterich, John Rendu","doi":"10.1177/22143602251341413","DOIUrl":"https://doi.org/10.1177/22143602251341413","url":null,"abstract":"<p><p>The <i>TNNC2</i> gene is crucial for skeletal muscle function, and pathogenic variants have been linked to congenital myopathies characterized by hypotonia, muscle weakness, and respiratory insufficiency. To date, <i>TNNC2</i>-related myopathies have been associated only with autosomal dominant missense variants. We report here the first family case of a recessive form of myopathy related to <i>TNNC2</i>. We identified the homozygous splice variant <i>TNNC2</i>(NM_003279.3):c.314 + 1G > C p.(?) in two siblings with a severe clinical presentation, resulting in one neonatal death and one medical termination of pregnancy. This variant induces a splicing defect that leads to a complete loss of the <i>TNNC2</i> physiological transcript<i>.</i> This case expands the spectrum of <i>TNNC2</i> variants with a late-onset fetal loss. To the best of our knowledge, this is the first case reporting a recessive form of severe neonatal hypotonia due to <i>TNNC2</i> variant.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251341413"},"PeriodicalIF":3.2,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales.","authors":"Amol K Bhandage, Yu-Fang Huang, Tanel Punga, Anna Rostedt Punga","doi":"10.1177/22143602251348753","DOIUrl":"https://doi.org/10.1177/22143602251348753","url":null,"abstract":"<p><p>Myasthenia Gravis (MG) is a heterogeneous neuromuscular autoimmune disorder characterized by fluctuating skeletal muscle weakness and a highly variable disease course. MG subgroups are defined by antibody type, age at onset, clinical phenotype, and thymus pathology. Given the unpredictable disease course, disease-specific objective biomarkers are needed to enable personalized treatment strategies and improve clinical trial outcomes beyond conventional clinical scales. Biomarkers are measurable indicators of physiological processes, disease states, and therapy responses. Despite significant advances in MG diagnostics and therapeutics, predictive biomarkers for personalized treatment remain underdeveloped. This review explores the progress and challenges in identifying blood-based biomarkers for MG, highlighting their potential applications in diagnosis and disease monitoring. Established diagnostic blood biomarkers include autoantibodies against acetylcholine receptors (AChR) and muscle-specific tyrosine kinase (MuSK), which confirm MG diagnosis and guide initial treatment decisions. Prognostic biomarkers, such as microRNAs (miR-150-5p and miR-30e-5p), show promise in predicting disease progression. Pharmacodynamic biomarkers, including CD20+ B cell counts, may enhance treatment precision for therapies like Rituximab. Furthermore, emerging research on metabolites, T and B-cell markers, complement factors, and proteomics offer new avenues to refine MG subtyping and identify molecular signatures predictive of treatment response to novel immunosuppressants. While the journey toward clinically useful blood biomarkers in MG remains complex, ongoing collaborative efforts within the MG research community hold the potential to revolutionize disease management. Future studies integrating multi-omics approaches, large-scale longitudinal cohorts, and disease controls will be critical to translating these biomarkers from research into routine clinical practice.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251348753"},"PeriodicalIF":3.2,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telemedicine and remote monitoring in neuromuscular diseases: Challenges and opportunities.","authors":"Francesca Torri, Erika Schirinzi, Lorenzo Fontanelli, Giulia Ricci, Michelangelo Mancuso, Mario Bochicchio, Gabriele Siciliano","doi":"10.1177/22143602251330436","DOIUrl":"https://doi.org/10.1177/22143602251330436","url":null,"abstract":"<p><strong>Background: </strong>Telemedicine, the application of those information technologies to remotely provide health services either for synchronously catching or asynchronous monitoring patient medical data, has shown a growing and widespread application in several chronic diseases, and, especially during and after COVID-19 pandemics, also in neuromuscular diseases.</p><p><strong>Objective: </strong>this review aims at providing an updated overview on the application of telemedicine and telemonitoring tools in neuromuscular diseases, in clinical practice, research and trials.</p><p><strong>Methods: </strong>a literature search was conducted on PubMed using keywords regarding telemedicine applications and several neuromuscular diseases, including papers up to May 2024.</p><p><strong>Conclusions: </strong>several tools have been developed and tested in myopathies, motoneuron diseases, myasthenia gravis and peripheral neuropathies, providing monitoring, assistance, and rehabilitation protocols for such frail population, for which obtaining real life data remotely can represent a concrete advantage in clinical trials and clinical practice. Although several barriers in the implementation of telemedicine in NMD still need to be overcome, there is evidence for both clinicians and patients showing positive acceptance and satisfaction on the use of remote supports, regarding them as confident outcome measures of quality of life in view of a more general concept of e-health solutions in routine medical care.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251330436"},"PeriodicalIF":3.2,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modelling mitochondrial diseases in neurons <i>In Vitro</i>: A systematic review.","authors":"Mariana Zarate-Mendez, Nihal A Basha, Oliver Podmanicky, Natalia Malig, Denisa Hathazi, Rita Horvath","doi":"10.1177/22143602241307198","DOIUrl":"https://doi.org/10.1177/22143602241307198","url":null,"abstract":"<p><p>Mitochondrial diseases, characterized by disruptions in cellular energy production, manifest diverse clinical phenotypes despite a shared molecular aetiology. Of note is the frequent involvement of the brain in these pathologies. Given the inherent challenges associated with accessing human tissue and the limitations of mouse models, especially concerning mitochondrial DNA (mtDNA), in vitro modelling is crucial in elucidating brain-related manifestations of mitochondrial diseases.In this review we recapitulate the current available in vitro models used to study neuronal cell types and advance our understanding of mitochondrial brain disease. This inquiry is especially pertinent considering the scarcity of suitable animal models, necessitating reliance on in vitro models to elucidate underlying molecular mechanisms. We found fifty papers modelling neuronal mechanisms of mitochondrial diseases in-vitro. While there was an even split between nuclear and mtDNA mutations, MELAS was the most commonly modelled syndrome. The emerging technologies in the stem cell field have revolutionized our approach to investigate cellular specificity in mitochondrial diseases, and we found a clear shift from neuroblastoma cell lines to iPSC-derived models. Interestingly, most of these studies reported impaired neuronal differentiation in mutant cells independent of the syndrome being modelled. The generation of appropriate in vitro models and subsequent mechanistic insights will be central for the development of novel therapeutic avenues in the mitochondrial field.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602241307198"},"PeriodicalIF":3.2,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}