Journal of neuromuscular diseases最新文献

{"title":"A historical perspective on the development of antisense oligonucleotide treatments for Duchenne muscular dystrophy and spinal muscular atrophy.","authors":"Annemieke Aartsma-Rus, Shin'ichi Takeda","doi":"10.1177/22143602251317422","DOIUrl":"https://doi.org/10.1177/22143602251317422","url":null,"abstract":"<p><p>Splice modulating antisense oligonucleotides (ASOs) have been approved for the treatment of spinal muscular atrophy (nusinersen) and Duchenne muscular dystrophy (eteplirsen) since 2016. Nusinersen obtained full approval based on convincing functional evidence in treated patients. The treatment is currently approved in over 40 countries. By contrast, eteplirsen received accelerated approval and functional evidence from clinical trials that treatment slows down disease progression is still lacking. Approval and access is restricted to the USA and several countries in the Middle-East. In this historical perspective we look back to the development paths of these two ASOs focusing on the differences between the approaches, the target tissues and the diseases. Based on this we propose learnings for future development of ASOs for progressive neuromuscular diseases.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251317422"},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542393","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":"Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy.","authors":"Meghana Bomma, Donovan Lott, Sean Forbes, Renata Shih, John-Anthony Coppola, Jeffrey W Christle, Tina Duong, Joseph Russo, Aditi Pant, Carmen Leon-Astudillo, Julie Berthy, Christina Cousins, Manuela Corti, Barry Byrne, James May, W Xue, Tanja Taivassalo","doi":"10.1177/22143602251319170","DOIUrl":"https://doi.org/10.1177/22143602251319170","url":null,"abstract":"<p><strong>Background: </strong>Cardiopulmonary exercise testing (CPET) is the gold-standard for quantification of peak oxygen uptake (VO₂) and cardiorespiratory and muscle responses to exercise. Its application to Duchenne muscular dystrophy (DMD) has been scarce due to the notion that muscle weakness inherent to disease restricts the cardiorespiratory system from reaching maximal capacity.</p><p><strong>Objective: </strong>To investigate the utility of CPET in DMD by 1) establishing whether patients can perform maximal-effort exercise for valid VO₂ peak assessment; 2) quantifying VO₂ peak repeatability; 3) characterizing muscle and cardiorespiratory responses; 4) comparing VO₂ peak to 6-min walk distance (6MWD).</p><p><strong>Methods: </strong>Twenty-seven DMD and eight healthy boys (6 years and older) underwent CPET using an incremental work-rate protocol for leg (ambulatory) or arm (non-ambulatory) cycling with measurement of heart rate (HR) and gas-exchange variables from rest to maximal-effort. The oxygen cost of work (ΔVO₂/Δwork-rate) was calculated, and peak exercise parameters (VO₂, HR, O₂ pulse, ventilation (VE) and ventilatory threshold (VT)) were considered valid if the respiratory exchange ratio ≥1.01.</p><p><strong>Results: </strong>VO₂ peak was valid (81.5% of patients), repeatable (intraclass correlation coefficient = 0.998) and low in ambulatory and non-ambulatory DMD compared to controls (19.0 ± 6.0; 10.7 ± 2; 35.2 ± 4.5 mL/kg/min respectively). VT was low (30.8 ± 10.7; 19.4 ± 3.0; 61.2 ± 6.9% VO₂ peak) reflecting significant muscle metabolic impairment. Peak HR in ambulatory-DMD (172 ± 14 bpm) was similar to controls (183 ± 8.3 bpm), but O₂ pulse was low (3.4 ± 1.0; 6.5 ± 1.1 mL/beat). Peak VE/VO₂ (ambulatory = 42.1 ± 6.8; non-ambulatory = 42.2 ± 7.8; controls = 34.3 ± 4.6) and ΔVO₂/Δwork-rate were elevated (ambulatory = 12.4 ± 4.9; non-ambulatory = 19.0 ± 9.7; controls = 10.1 ± 0.8) revealing ventilatory and mechanical inefficiency. Despite strong correlation between VO₂ peak and 6MWD, severity of impairment was discordant.</p><p><strong>Conclusion: </strong>Valid CPET is feasible in DMD, revealing low VO₂ peak due to abnormal muscle metabolic and cardiorespiratory responses during dynamic exercise. CPET reveals cardiorespiratory limitations in DMD boys with unremarkable 6MWD, and should be considered an integrative approach in clinical care and assessment of emerging therapeutics.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251319170"},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542411","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":"Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.","authors":"Johanna Cw Deenen, André Lm Verbeek, Jan Jgm Verschuuren, Baziel Gm van Engelen, Nicol C Voermans","doi":"10.1177/22143602241313118","DOIUrl":"https://doi.org/10.1177/22143602241313118","url":null,"abstract":"<p><strong>Background: </strong>Epidemiological frequency measures serve as reference point for patients, clinicians, researchers, and policymakers. Previously, we published a comprehensive review of the literature with prevalence and incidence rates for thirty neuromuscular disorders frequently encountered in the neuromuscular clinic. No meta-analyses were available at the time.</p><p><strong>Objective: </strong>We included various new studies and meta-analyses that have been published since 2014, we aim to update our previous review.</p><p><strong>Methods: </strong>Pubmed was searched for 'incidence' and 'prevalence' in combination with seventeen acquired and inherited neuromuscular disorders to identify peer-reviewed literature from 1990 to 2023. If multiple prevalence and incidence rates were found, these were summarized by providing the mean, the number of the estimates on which the mean was based and the range of these estimates. Additionally, we searched for meta-analyses to compare the found mean prevalence rates based on the summary of individual studies with the pooled prevalence rates based on the meta-analyses.</p><p><strong>Results: </strong>The mean prevalence estimates for 17 disorders ranged from 0.3/100,000 population for Lambert-Eaton myasthenic syndrome, glycogenosis type V and nemaline myopathy to 20/100,000 for Charcot-Marie-Tooth disease type I. We found annual incidence rates for eight disorders, ranging from 0.3/100,000 population for progressive (spinal) muscular atrophy and facioscapulohumeral muscular atrophy to 1/100,000 for Charcot-Marie-Tooth disease type 1 and myotonic dystrophy type 1. Plotting the mean prevalence estimates from the current study against the pooled prevalence estimates from eight meta-analyses showed reasonable agreement.</p><p><strong>Conclusions: </strong>Epidemiological frequencies about neuromuscular diseases- and in particular data on incidence are scarce. The mean prevalence estimates based on recently published studies on individual cohorts correspond well with the findings from the sparingly performed meta-analyses.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602241313118"},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542432","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":"Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension.","authors":"Ali A Habib, Artur Drużdż, Julian Grosskreutz, Renato Mantegazza, Sabrina Sacconi, Kimiaki Utsugisawa, Tuan Vu, John Vissing, Maryam Gayfieva, Irene Pulido-Valdeolivas, Thaïs Tarancón, Franz Woltering, Vera Bril","doi":"10.1177/22143602241308181","DOIUrl":"https://doi.org/10.1177/22143602241308181","url":null,"abstract":"<p><strong>Background: </strong>Generalized myasthenia gravis (gMG) is a rare, chronic, fluctuating and heterogeneous autoimmune disease requiring lifelong treatment. The Phase 3 MycarinG study demonstrated the efficacy and safety of one 6-week cycle of weekly rozanolixizumab in adult patients with gMG. Open-label extension studies demonstrated consistent symptom improvement over additional treatment cycles.</p><p><strong>Objective: </strong>To present findings from pooled analyses on the long-term safety of repeated cycles of rozanolixizumab.</p><p><strong>Methods: </strong>Data from the Phase 3 randomized MycarinG study (NCT03971422) and the ongoing open-label extension study MG0007 (NCT04650854) were pooled to assess safety outcomes during cyclical treatment, including incidence of any treatment-emergent adverse events (TEAEs), severe TEAEs, serious TEAEs and TEAEs leading to discontinuations. Additional analyses were performed for TEAEs, including headache, infections, and hypersensitivity reactions.</p><p><strong>Results: </strong>At data cutoff (July 8, 2022), a total of 188 patients in MycarinG and MG0007 had received ≥1 treatment cycle with rozanolixizumab; total time in studies was 174.71 patient-years. Overall, 169/188 (89.9%) patients experienced any TEAE: 89/188 (47.3%) experienced any headache (including migraine, migraine with aura); 85/188 (45.2%) experienced an infection; 25/188 (13.3%) experienced a hypersensitivity reaction. One patient experienced an event of aseptic meningitis. The majority of AEs were mild-to-moderate in intensity, and incidence did not increase with repeated cyclic treatment. A total of 50/188 (26.6%) patients experienced severe TEAEs, the most common of which were MG worsening in 4/133 (3.0%) and 7/131 (5.3%) patients in the rozanolixizumab 7 mg/kg and rozanolixizumab 10 mg/kg groups, respectively, MG crisis in 0 and 4/131 (3.1%) patients, and headache in 1/133 (0.8%) and 7/131 (5.3%) patients.</p><p><strong>Conclusions: </strong>These pooled results, representing 174.71 patient-years in the studies, demonstrate that treatment with rozanolixizumab in patients with gMG was well tolerated, and TEAEs were consistent and did not increase in incidence over repeated cycles in this patient population.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602241308181"},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542418","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 progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.","authors":"Hiroyuki Ishiura","doi":"10.1177/22143602251319164","DOIUrl":"https://doi.org/10.1177/22143602251319164","url":null,"abstract":"<p><p>Oculopharyngodistal myopathy (OPDM) is a rare muscular disorder characterized by ocular symptoms, pharyngeal symptoms, facial weakness, and distal predominant limb muscle weakness. The cause of the disease was unknown for a long time. Recently, however, it has been reported that expansions of CGG or CCG repeats in <i>LRP12</i>, <i>LOC642361</i>/<i>NUTM2B-AS1</i>, <i>GIPC1</i>, <i>NOTCH2NLC</i>, <i>RILPL1</i>, and <i>ABCD3</i> are the causes of the disease. Cases sometimes present with neurological symptoms, and the clinical spectrum of diseases caused by expansions of CGG or CCG repeats has been proposed to be called FNOP-spectrum disorder after the names of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, oculopharyngeal myopathy with leukoencephalopathy, and OPDM. In this article, the recent progress in the field of OPDM is reviewed, and remaining issues in OPDM are discussed.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251319164"},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143541528","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":"A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.","authors":"Lakshmi Balaji, Michelle A Farrar, Eppie M Yiu, Didu Kariyawasam","doi":"10.1177/22143602241313113","DOIUrl":"https://doi.org/10.1177/22143602241313113","url":null,"abstract":"<p><p>Since 2016/17, three disease modifying therapies for spinal muscular atrophy (SMA) have been translated into clinical practice. This has driven the implementation of newborn screening to transform health outcomes and clinical practice. SMA registries have provided important sources of data on the evolution of novel phenotypes within the therapeutic era, treatment patterns, epidemiology, genotype-phenotype correlations, care and lived experiences of people living with SMA, to enrich knowledge and learnings of the condition in this changed landscape. In this state-of-the-art review, we consider the utility and outcomes of SMA registries and evaluate their role and importance. In 2024 there are more than 35 national registries cataloguing over 8000 individuals with SMA. Additional registries are operated by advocacy groups and pharmaceutical companies, compiling data for more than 10,000 individuals with this condition. This review highlights the essential role of registries in supporting clinical trial recruitment, defining the changing incidence and prevalence of SMA in an age of reproductive carrier and newborn screening, establishing natural history data, contributing to post market drug surveillance, assessing real world clinical and cost effectiveness and capturing patient-reported outcome measures (PROMS) and experience measures (PREMS). Whilst their utility is broad, barriers to effective data curation and management are evaluated including challenges of data curation and fragmentation, quality and sharing, alongside resource constraints and sustainability. Strategies to enhance the value of registries include the imperative to collaborate across clinical research networks and the value of interoperability, enabled by standardization of data collection and entry, sharing procedures and public and patient involvement. As new phenotypes and unmet needs emerge in the post therapeutic era, registries remain central tools in generating new insights now and into the future and are poised to respond meaningfully to the priorities of individuals living with SMA.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602241313113"},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542396","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":"Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD).","authors":"Laura Jb Merkenhof, Yvonne Veenhuizen, Elizabeth Vroom, Greet Sterenberg, Wendy Chm Hesseling, Jan T Groothuis, Edith H Cup, Saskia Ls Houwen-van Opstal","doi":"10.1177/22143602251324847","DOIUrl":"https://doi.org/10.1177/22143602251324847","url":null,"abstract":"<p><strong>Background: </strong>For people with Duchenne muscular dystrophy (DMD), the transition into their desired adulthood can be challenging.</p><p><strong>Objectives: </strong>This study aims to; (1) exploring the desired participation for (young) adults with Duchenne muscular dystrophy (DMD); (2) exploration of the view and role of parents in this process; and (3) capturing the gap and the influencing factors between the current and desired situation.</p><p><strong>Methods: </strong>A cross-sectional digital survey was conducted, based on literature, expert opinion, and interviews with young adults with DMD and their parents. Descriptive and non-parametric statistics were used.</p><p><strong>Results: </strong>43 adults* with DMD an 30 parents completed the survey. All adults with DMD wanted to have an independent life. They were satisfied with their leisure activities. Gaps between the desired and current situation were identified concerning facilities and aids, social activities, and employment. Important factors of influence on these topics were accessibility, outdoor mobility, adequate care facilities, self-confidence, adequate knowledge of professionals and caregivers, and support of parents. The 30 participating parents saw limited opportunities in accessing facilities and aids, job opportunities, and their son having an intimate relationship.</p><p><strong>Conclusions: </strong>Adults with DMD desire a meaningful and independent life. The challenges they, and their parents face are mainly on social participation. More focus and collaboration is needed between health care services, social services and occupation environments to empower people with DMD living their desired adult life. *Adults; In this article, we use the term adults. By this we include boys aged 16 and 17.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251324847"},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542412","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":"Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.","authors":"Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Gautham Arunachal, Kosha Srivastava, Vaishnavi Desai, Priya Treesa Thomas, Muddasu Suhasini Keerthipriya, Akshata Huddar, Gopikrishnan Unnikrishnan, Ram Murthy Anjanappa, Atchayaram Nalini","doi":"10.1177/22143602241313119","DOIUrl":"https://doi.org/10.1177/22143602241313119","url":null,"abstract":"<p><strong>Introduction: </strong>Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably and caused by Titin (<i>TTN)</i> gene mutations located in Chromosome 2. The manifestations extend from congenital to adult-onset myopathies. Here we describe the phenotype-genotype heterogeneity of patients with myopathy/muscular dystrophy associated with TTN variants in an Indian cohort.</p><p><strong>Methods: </strong>A retrospective descriptive study of 12 patients diagnosed with primary muscle disease evaluated between 2016 and 2023 harboring rare <i>TTN</i> variants.</p><p><strong>Results: </strong>Eight patients were included (M:F ratio - 3:1). The median age at onset of entire cohort is 5 (range: birth- 33 years). The major clinical phenotypes were congenital myopathy [n = 3, 37.5%], juvenile onset myopathy [n = 3, 37.5%] and adult AD - Hereditary myopathy with early respiratory failure (HMERF) phenotype [n = 2, P6, P8; 25%]. Prominent / wide first interdigital space in feet in congenital and juvenile forms (c.38421_38437delinsC, c.106531 + 1G > A) was a novel feature. The variant c.95134T > C previously reported in HMERF in British population, was noted in two patients in our cohort and with GNE myopathy like phenotype in one. Muscle MRI done in congenital myopathy (c.26201-1G > A) showed fatty infiltration of anterior and posterior thigh with sparing of gracilis, adductor magnus and tibialis anterior.</p><p><strong>Conclusion: </strong>This is the first Indian study with a large cohort demonstrating many novel mutations and clinical heterogeneity expanding the spectrum of titinopathies.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602241313119"},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542301","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":"Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.","authors":"Hoang Tien Trong Nghia, Thirugnanam Umapathi, Nguyen Minh Duc, Nguyen Le Trung Hieu, Mai Phuong Thao","doi":"10.1177/22143602251313722","DOIUrl":"https://doi.org/10.1177/22143602251313722","url":null,"abstract":"<p><strong>Background: </strong>In many developing regions, genetic data on Charcot-Marie-Tooth disease (CMT) remains scarce.</p><p><strong>Objective: </strong>This study aimed to investigate the genetic landscape of CMT in Vietnam to guide the development of cost-effective diagnostic algorithms for patients with suspected genetic neuropathies.</p><p><strong>Methods: </strong>We recruited 44 patients with a diagnosis of CMT from three tertiary centers between March 2021 and December 2023 and recorded their clinical and electrophysiological characteristics. All patients were analyzed for duplications or deletions of <i>PMP22</i>, <i>GJB1</i>, <i>MPZ</i>, and <i>MFN2</i> via multiplex ligation-dependent probe amplification (MLPA) and for 94 genes via targeted next-generation sequencing (NGS). The identified variants were classified per the American College of Medical Genetics and Genomics 2015 guidelines using VarSome, a bioinformatics engine.</p><p><strong>Results: </strong>Among 44 patients, 24 carried a total of 26 variants. Of these 26 variants, 15 were (57.7%) pathogenic, 6 (23.1%) were likely pathogenic, and 5 (19.2%) were variants of uncertain significance (VUS). Excluding the VUS, the diagnostic yield of the targeted sequencing was 43.2% (19/44). Through MLPA, <i>PMP22</i> duplications were identified in 10 patients with the demyelinating type of CMT and 1 patient with the unclassified CMT type. The combined yield of MLPA and gene panels was 68.2% (30/44). We detected three novel pathogenic/likely pathogenic variants in <i>GJB1</i>, <i>INF2</i>, and <i>IGHMBP2</i>, as well as three novel VUS in <i>MPZ</i>, <i>PMP22</i>, and <i>INF2</i>. <i>IGHMBP2</i> may represent the most prevalent autosomal recessive gene associated with CMT in Vietnam.</p><p><strong>Conclusions: </strong>We propose a sequential genetic testing approach for CMT in resource-limited settings, with the initial testing via MLPA for demyelinating CMT, followed by NGS for those who test negative. Our findings broaden the CMT genotype-phenotype profile of the Vietnamese population by identifying six novel candidate variants.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602251313722"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458380","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":"In response to Gulcin Akinci's and Haluk Topaloglu's letter regarding our article \"Predictors of loss of ambulation in Duchenne muscular dystrophy: A systematic review and meta-analysis\".","authors":"E Landfeldt, A Alemán, S Abner, R Zhang, C Werner, I Tomazos, N Ferizovic, H Lochmüller, J Kirschner","doi":"10.1177/22143602241312519","DOIUrl":"https://doi.org/10.1177/22143602241312519","url":null,"abstract":"","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":"12 1","pages":"22143602241312519"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515870","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}