Neuromuscular Disorders最新文献

{"title":"Surgical correction of foot deformities in Charcot-Marie-Tooth-disease: effects on personal goals and gait capacity","authors":"Heleen van der Wielen ,&nbsp;Jorik Nonnekes ,&nbsp;Michelle van Mierlo ,&nbsp;Christian M.A. Donken ,&nbsp;Jan Willem K. Louwerens ,&nbsp;Noël L.W. Keijsers","doi":"10.1016/j.nmd.2025.106213","DOIUrl":"10.1016/j.nmd.2025.106213","url":null,"abstract":"<div><div>Charcot Marie Tooth disease (CMT) is the most common group of inherited muscular disorders, resulting in foot deformities. Foot and ankle surgical procedures are frequently performed to improve function in persons with CMT. Understanding the patients’ personal goals is crucial for effective counselling. However, there is limited evidence regarding the extent to which personal goals are achieved through surgery, as well as the impact of surgery on balance and gait capacity. A prospective cohort study was conducted in 28 persons with CMT who underwent surgery. A wide range of personal goals was identified using the Canadian Occupational Performance Measure (COPM), with the most common goal being 'less problems during walking on uneven ground with shoes’. Wilcoxon signed-rank revealed a significant improvement in mean COPM scores after surgery for both performance (median difference: 3.0, range: -2 to 8; <em>p</em> &lt; 0.001) and satisfaction (3.5, -2 to 9; <em>p</em> ≤ 0.001). Mini-BESTest (balance capacity) also showed significant improvement (17.0 to 20.3 points, <em>p</em> &lt; 0.001), whereas gait (gait velocity, gait width, and single support time) remained unchanged. This study highlights the variability in personal goals, with an overlap on individual and group levels. After surgery, balance capacity improved, both objectively and subjectively.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"55 ","pages":"Article 106213"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145183785","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":"Applying the international rare disease research consortium (IRDiRC) N-of-1 therapy task force eligibility criteria for individualised therapies use case: Duchenne muscular dystrophy","authors":"Annemieke Aartsma-Rus ,&nbsp;Anneliene H. Jonker ,&nbsp;Daniel O’Connor","doi":"10.1016/j.nmd.2025.106221","DOIUrl":"10.1016/j.nmd.2025.106221","url":null,"abstract":"<div><div>The nucleic acid therapy field is making progress in rare diseases, with multiple regulatory approved therapeutic modalities. As these therapeutic approaches are programmable, they also provide an opportunity for individualized therapy development. Indeed, currently over 30 individuals are being treated with such N-of-1 antisense oligonucleotides. The International Rare Disease Research Consortium (IRDiRC) Task Force of N-of-1 treatments published a roadmap to outline the different steps that are involved, among others, in establishing whether an individual is eligible for N-of-1 treatment development. We have tested these principles, using Duchenne muscular dystrophy as a use case. Our analysis shows that while assessing some eligibility aspects, such as genetic eligibility, is relatively straightforward, assessing other criteria, such as unmet medical need and extrapolation from approved treatments, was more difficult.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"55 ","pages":"Article 106221"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145213278","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":"Guide for location of abstracts","authors":"","doi":"10.1016/S0960-8966(25)00957-5","DOIUrl":"10.1016/S0960-8966(25)00957-5","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 106230"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204164","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":"01INVHow can proteomics help to elucidate the pathophysiological crosstalk in muscular dystrophy and associated multi-system dysfunction?","authors":"K. Ohlendieck","doi":"10.1016/j.nmd.2025.105455","DOIUrl":"10.1016/j.nmd.2025.105455","url":null,"abstract":"<div><div>Mass spectrometry-based proteomics, based on both bottom-up or top-down biochemical approaches, represents a core analytical technique of systems biology that is deeply embedded in the multi-omics field of pathobiochemical research. This presentation focuses on the question of how large-scale proteomic surveys can be utilized to improve our understanding of the molecular and cellular mechanisms that underlie complex human disorders, such as Duchenne muscular dystrophy. Proteomic studies have confirmed that genetic abnormalities in the DMD gene severely affect the neuromuscular system and that loss of the cytoskeletal dystrophin protein isoform Dp427-M and concomitant reduction of its associated sarcolemmal glycoprotein complex triggers severe myofibre degeneration, chronic inflammation and reactive myofibrosis. Of note, dystrophinopathy is also characterized by multi-system pathophysiological alterations affecting especially the central nervous system, cardiorespiratory function, the kidneys and liver metabolism. Newly established proteomic biomarker signatures have the potential to enhance the comprehensive screening of these multi-system abnormalities, as well as improve differential diagnostics, prognostic evaluations, therapeutic monitoring, and the systematic identification of novel therapeutic targets to treat Duchenne muscular dystrophy. It is envisaged that the future integromic screening of muscular dystrophy would encompass the holistic integration of diverse omics-type methods, including tissue proteomics, single cell proteomics, subproteomics and biofluid proteomics.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105455"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204178","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":"42PRare case of Guillain-Barré syndrome presenting as isolated acute dysphagia with full recovery","authors":"M. Yoon,&nbsp;S. Lee,&nbsp;Y. Yoo","doi":"10.1016/j.nmd.2025.105505","DOIUrl":"10.1016/j.nmd.2025.105505","url":null,"abstract":"<div><div>Guillain-Barré syndrome (GBS) is an acute immune-mediated polyneuropathy, typically presenting with progressive limb paralysis. Dysphagia can occur due to cranial nerve involvement. We report the case of a 76-year-old woman who developed sudden-onset dysphagia and was subsequently diagnosed with an atypical GBS variant. Notably, she exhibited no limb weakness or sensory abnormalities but required nasogastric tube feeding due to severe swallowing difficulty. Electromyography and nerve conduction studies showed no evidence of polyneuropathy suggestive of GBS, while cerebrospinal fluid analysis revealed mild albumin-cytological dissociation. Following intravenous immunoglobulin therapy, she achieved complete recovery. This case highlights that, in rare GBS variants, dysphagia may be the initial or sole manifestation, posing diagnostic challenges. It underscores the importance of a thorough evaluation of swallowing mechanisms and vigilance in identifying uncommon etiologies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105505"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204184","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":"170PHeart rate and ventilation during submaximal cycling exercise as physiological outcome measures in Duchenne muscular dystrophy","authors":"T. Taivassalo ,&nbsp;M. Paul ,&nbsp;T. Duong ,&nbsp;D. Lott ,&nbsp;S. Forbes ,&nbsp;R. Shih ,&nbsp;C. Leon Astudillo ,&nbsp;R. Sullivan ,&nbsp;L. Sweeney","doi":"10.1016/j.nmd.2025.105523","DOIUrl":"10.1016/j.nmd.2025.105523","url":null,"abstract":"<div><div>Timed function tests and the 6-minute-walk distance are standard efficacy outcomes in clinical trials of boys with Duchenne muscular dystrophy (DMD). However, they are subject to motivation and ambulatory ability and provide limited information on cardiorespiratory function during physical activity. Given that the heart and respiratory muscles are involved in DMD pathology, along with the potential of emerging therapeutics to improve physical function, an assessment approach to quantify cardiorespiratory parameters in ambulatory and non-ambulatory boys is needed. We recently performed maximal effort cardiopulmonary exercise testing to measure peak heart rate (HR) and ventilation (VE), reporting it valid in 81.5% of DMD boys tested (Bomma et al, 2025). Measurement of these outcomes during submaximal exercise is commonly used to reflect physiological efficiency in other clinical populations, but has never been reported in DMD. Our current aim is to examine heart rate (HR) and ventilation (VE) relative to oxygen uptake (VO₂) during submaximal cycling and highlight their potential as physiological measures in ambulatory (A) and non-ambulatory (NA) boys with DMD. Eleven A-DMD (10±3.5 years), 3 NA-DMD (15.6±4.1 yrs) and 7 healthy controls (11±2 years) performed submaximal exercise (unloaded warm-up followed by 5 watt increments in 2-minute stages up to 15 watts) on a leg or arm ergometer (Lode Corival or Angio, the Netherlands). HR, VE and VO₂ were measured at every stage (Cosmed Quark metabolic cart), and the oxygen uptake efficiency slope (OUES) was calculated from the slope of increase in VO₂ and log VE. OUES relative to body surface area (BSA) is an objective reproducible measure of the integrated efficiency of the body to utilize oxygen for energy production during activity and is not influenced by exercise intensity (Akkerman M, et al, 2010). All A-DMD completed at least 15 watts and NA-DMD completed at least 5 watts of submaximal cycling with no adverse events. Comparison at 5 watts revealed higher exercise HR in A-DMD (133±11.6 bpm) and NA-DMD (140±24.3 bpm) compared to controls (95.2±16.8 bpm, p&lt;0.001). Similarly at higher workloads, HR was higher in DMD compared to controls at 10 watts (133.3±14.4 versus 96.5±17.4 bpm, p&lt;0.01) and 15 watts (145.4±16.9 versus 101.3±18.3 bpm, p&lt;0.01). The OUES/BSA was lower in A-DMD and NA-DMD compared to controls (1530.0±195; 963.1±178; 645.1±285.0 ml/L/m² respectively p&lt;0.0001), reflecting a hyperventilatory response to oxygen uptake and inefficiency of aerobic metabolism. Our findings reveal that boys with DMD demonstrate high HR and ventilatory responses during submaximal exercise, which reflect inefficient physiological responses to the increasing demands of exercise. Our data support the use of submaximal HR and OUES/BSA to elucidate cardiorespiratory limitations relating to disease severity and determine whether therapeutics improve these inefficiencies in A and NA-DMD.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105523"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204263","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":"11PAn advanced clinico-sero-histological model to improve differentiation among idiopathic inflammatory myopathy subgroups","authors":"B. Jassal ,&nbsp;A. Dhall ,&nbsp;V. Vishnu ,&nbsp;D. Bhadu ,&nbsp;V. Suri ,&nbsp;M. Sharma","doi":"10.1016/j.nmd.2025.105475","DOIUrl":"10.1016/j.nmd.2025.105475","url":null,"abstract":"<div><div>Idiopathic inflammatory myopathies (IIM) are a group of rare autoimmune disorders. The identification of myositis-specific autoantibodies and overlap with other connective tissue diseases suggests distinct subgroups. This study aims to establish a novel classification system for IIM, integrating clinical, serological, and histopathological profiles. This retrospective cohort study included 156 definitive IIM patients with complete data, collected between October 2019 and December 2023. Patients were classified into subgroups: dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM), immune-mediated necrotizing myopathy (IMNM), anti-synthetase syndrome (ASS), and overlap myositis (OM). A refined classification scheme was developed using unsupervised multiple correspondence analysis and hierarchical clustering based on 58 variables. Of the 156 participants (60.9% female, median age 38 years), six clusters emerged. Cluster 1 (n=59) was mainly DM (n=45, 76%, pa=1e-05 (OR=152.7, 95%CI [33.3-700.5])), Cluster 2 (n=33) consisted of PM (n=19, 58%, pa=1e-05 (OR=13.8, 95%CI [5.5-34.9])), Cluster 3 (n=19) was primarily IBM (n=14, 74%, pa=1e-05 (OR=125.1, 95%CI [27-579.7])), Cluster 4 (n=21) was mostly OM (n=9, 43%, pa=0.0162 (OR=3.7, 95%CI [1.4-153.7])), Cluster 5 (n=16) was IMNM (n=11, 69%, pa=1e-05 (OR=41.8, 95%CI [11.4-0.01]), and Cluster 6 (n=8) was ASS (n=5, 63%, pa=1e-04 (OR=33.6, 95%CI [6.6-169.7]). K-fold cross-validation of the classification tree achieved the highest area under the curve value (0.85) at a complexity parameter (cp) of 0.02. The clinico-sero-pathological classification system identified six IIM subgroups: dermatomyositis, polymyositis, inclusion body myositis, immune-mediated necrotizing myopathy, antisynthetase syndrome, and overlap myositis, warranting external validation.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105475"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204294","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":"24PImmune-checkpoint inhibitor-induced myositis – myopathology revealing novel phenotypes","authors":"M. Holzer ,&nbsp;C. Dittmayer ,&nbsp;H. Goebel ,&nbsp;A. Dressel ,&nbsp;W. Stenzel","doi":"10.1016/j.nmd.2025.105487","DOIUrl":"10.1016/j.nmd.2025.105487","url":null,"abstract":"<div><div>The established use of immune checkpoint inhibitors (ICI) in cancer therapy has proven to be a highly beneficial approach for many oncology patients with also metastatic diseases. However, ICI can cause life-threatening immune-related adverse events (irAEs) with myositis being among the most prevalent neurological side-effects with dismal prognosis especially if associated with myocarditis. In 2018, we described the first series of patients highlighting clinicopathological features of immune checkpoint inhibitor-induced myositis. Those myopathological characteristics consisted of necrotic myofibers with a diffuse distribution and focal clusters as well as endomysial lymphomonocytic infiltrates. Others described patterns consisting of a perimysial pathology. A transcriptomic profiling-based study revealed three subgroups of ICI induced-myositis, consisting of ICI-DM, ICI-MYO1 and ICI-MYO2. The ICI-DM subgroup was accompanied by dermatomyositis features like a type I interferon signature and typical autoantibodies (anti-TIF1ɣ), while ICI-MYO1 patients had highly inflammatory features and myocarditis with dismal prognosis and ICI-MYO2 patients had mild necrotizing myositis. Here, we report on two additional myopathological patterns that have not yet been described either morphologically or by transcriptomic profiling, namely antisynthetase syndrome (ASyS)-like and immune myopathy with abundant macrophages (IMAM)-like morphology. In ASyS-like ICI-myositis we could detect MHC class I and II expression on myofibers but without complement deposition on fibers and necrotic fibers. Furthermore, macrophages but also CD8-positive T cells are detectable in the peri- and endomysium. In IMAM-like ICI-myositis we found strong MHC class II and strong, but less pronounced MHC class I sarcoplasmatic expression with massively endo- and perimysial infiltration of macrophages, myophagocytosis as well as focal necrotic fibers. The subtype was clinically correlating with very severe rhabdomyolysis and tetraparesis. The two new identified subtypes illustrate the key role of morphological analysis of ICI-myositis patients. Precise identification of the entire spectrum of myositis that can occur after/during treatment with ICIs is important to further evaluate pathogenetic hypotheses and improve clinical management, as depending on the subtype, initiation of treatment might be necessary even more rapidly and aggressively.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105487"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204346","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":"186PPerformance of upper limb in steroid-treated Duchenne muscular dystrophy: genotype-phenotype correlations","authors":"C. Wade ,&nbsp;A. Zygmunt ,&nbsp;P. Horn ,&nbsp;K. Bonarrigo ,&nbsp;L. Reebals ,&nbsp;I. Rybalsky ,&nbsp;C. Tian","doi":"10.1016/j.nmd.2025.105539","DOIUrl":"10.1016/j.nmd.2025.105539","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by absence or near absence of functional dystrophin protein that results in progressive weakness. Performance of Upper Limb (PUL) is a scale designed to measure upper limb motor performance changes of individuals with DMD. The latest iteration of PUL is 2.0, which has been used since 2015. Prior studies have demonstrated that the PUL scores of individuals with DMD begin to deviate from typically developing children at age 8 years. Differences have been reported between certain exon-skip amenable genotypes on the decline in PUL scores. The goal of this study was to assess the longitudinal changes in upper extremity motor function using PUL 2.0 scores of individuals with DMD treated with long-term glucocorticoid steroids and standard care at a single tertiary care center. Individuals were excluded if they were exposed to other disease modifying therapies. We retrospectively studied 188 patients with DMD with 972 PUL entry encounters that occurred from 4/12/2016 to 12/7/2023. The genotype distribution of our cohort was comparable to previously reported study cohorts. Mean steroid duration was 12.3 years. A mean total PUL score of 29.1 at ages &lt;15 years, 23.5 between ages 15-20 years, and 18.2 at ages &gt;20 years were demonstrated. The average PUL score decline of the entire group was 1.3 points per year. Secondary analysis was performed to evaluate the impact of genotype on PUL scores. Differences in PUL between certain exon skip-amenable genotypes were detected in the group above age 20 years with the exon 44 skip-amenable having higher scores and exon 51 skip-amenable having lower scores. Linear models demonstrated similar rates of decline by exon skip group but with a higher entry score for the exon 44 skip-amenable group, and lower for the exon 51 skip-amenable group. These data provide a reference dataset for PUL scores of steroid treated DMD patients.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105539"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204357","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":"37PMolecular differences between regenerating and inflamed myofibers in Inclusion body myositis","authors":"T. Nijssen ,&nbsp;S. Davis ,&nbsp;J. Raaphorst ,&nbsp;E. Bos ,&nbsp;R. O`Shaughnessy ,&nbsp;E. Aronica ,&nbsp;B. Kessler ,&nbsp;R. Fischer ,&nbsp;V. Raz","doi":"10.1016/j.nmd.2025.105500","DOIUrl":"10.1016/j.nmd.2025.105500","url":null,"abstract":"<div><div>The skeletal muscle tissue is heterogeneous in cell composition, predominantly composed of myofibers that determine muscle physiology. In aging and muscle diseases myofiber undergo alterations such as atrophy, regeneration, and inflammation. In Inclusion Body Myositis (IBM), an adult-onset condition, muscle weakness is accompanied by immune cells infiltration and the presence of regenerating myofibers. The molecular mechanisms underlying myofiber alterations to regenerating or inflamed states is poorly understood. We applied Laser-Capture Microdissection (LCM) mass spectrometry on immunostained cryosections of the vastus lateralis to identify protein networks and molecular signatures associated with IBM histopathology. Comparing IBM to control muscles, we observed downregulation of muscle and mitochondrial protein networks and upregulation of immune-related proteins, consistent with muscle weakness and inflammation in IBM. Analysis of myofiber specific signatures revealed that inflamed myofibers had limited similarities with centrally nucleated myofibers and embryonic myosin heavy chain (eMyHC) positive fibers, which were more similar to each other. Unique to each myofiber region we found proteins related to protein folding enriched in centrally nucleated fibers, while protein associated with granulation and the proteasome were enriched in both eMyHC positive myofiber and centrally nucleated myofibers. Additionally, aggregation-prone proteins were significantly enriched in IBM and inflamed myofibers. Overall, this study identifies myofiber-specific molecular signatures in IBM and highlights aggregation-prone proteins providing new insights into the molecular mechanisms underlying myofiber alteration.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105500"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204391","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}