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

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The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.
Maria Caputo, Benedikt Schoser
{"title":"The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.","authors":"Maria Caputo, Benedikt Schoser","doi":"10.36185/2532-1900-604","DOIUrl":"https://doi.org/10.36185/2532-1900-604","url":null,"abstract":"<p><strong>Objectives: </strong>Mutations in the FHL1 gene have been associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle. Six clinically distinct human myopathies can be recognized, including reducing body myopathy (RBM), X-linked dominant scapuloperoneal myopathy (SPM), X-linked myopathy with postural muscle atrophy (XMPMA), rigid spine syndrome (RSS), hypertrophic cardiomyopathy (HCM) and type 6 Emery- Dreifuss muscular dystrophy (EDMD). The core features of all described FHL1opathies are mostly scapuloperoneal muscle weakness, rigid spine, cardiac involvement, and cytoplasmic bodies in the muscle biopsy.</p><p><strong>Methods: </strong>We systematically reviewed the medical literature between the years 2000 and 2024 regarding the phenotype and genotype description of FHL1-associated myopathies.</p><p><strong>Results: </strong>Here, we report two novel patients presenting with an X-linked myopathy with postural muscle atrophy (XMPMA) caused by the c.672 C > G FHL1 gene mutation.</p><p><strong>Conclusion: </strong>When encountering these features in a patient, one may consider screening for an FHL1 mutation. The course ranges from a severe fatal course with early onset to very mild features with late onset. Once a dystrophinopathy has been excluded, increased CK values in male subjects with possible X-linked inheritance should always trigger FHL1 gene screening.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 4","pages":"123-129"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report.
Anna Annunziata, Gerardo Langella, Rosa Cauteruccio, Luigi Fiorentino, Giuseppe Fiorentino
{"title":"Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report.","authors":"Anna Annunziata, Gerardo Langella, Rosa Cauteruccio, Luigi Fiorentino, Giuseppe Fiorentino","doi":"10.36185/2532-1900-654","DOIUrl":"https://doi.org/10.36185/2532-1900-654","url":null,"abstract":"<p><p>Bethlem myopathy (BM) was first described in 1976 by Bethlem and van Wijngaarden in patients who presented a myopathy characterized by slowly progressive muscle weakness and typical flexion contractures of the long finger flexors, wrists, elbows, pectoralis muscles and ankles. Patients with Bethlem myopathy usually become symptomatic during the first or second decade of life. The condition is in most cases slowly progressive and more than two thirds of patients over 50 years of age may require aids for ambulation. Inheritance is usually autosomal dominant. However, patients with autosomal recessive (AR) BM have been recently reported in Literature. Cardiac involvement is usually absent. Respiratory muscle involvement necessitating nocturnal respiratory support is rarely reported in association with severe weakness later in life.</p><p><p>We describe a further case of ARBM in a 52-year-old man who presented a slowly progressive myopathy but developed a severe progressive respiratory involvement requiring ventilatory support.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 4","pages":"149-152"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.
Guillaume Baille, Gianmarco Severa, Camille Verebi, Robert-Yves Carlier, Edoardo Malfatti
{"title":"Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.","authors":"Guillaume Baille, Gianmarco Severa, Camille Verebi, Robert-Yves Carlier, Edoardo Malfatti","doi":"10.36185/2532-1900-675","DOIUrl":"https://doi.org/10.36185/2532-1900-675","url":null,"abstract":"<p><p>Tubular aggregate myopathy is a rare neuromuscular condition associated with the presence of myofibers protein accumulations, in the form of dense tubular aggregates. Clinically it is characterized by proximal muscular weakness, exercise-induced cramps, myalgias, and ocular features such as ophthalmoplegia and pupillary abnormalities. The involvement of the central nervous system is rare and not completely elucidated. Variants in <i>STIM1</i>, <i>ORAI1, CASQ1</i> genes are frequently associated with tubular aggregate myopathy. Here we describe a 35-year-old man who presented neonatal hypotonia, motor delay, seizures, and sensorineural hearing loss. During a SARS-CoV-2 infection at the age of 35, he developed myoclonus, encephalopathy, and marked muscular weakness. A deltoid muscle biopsy revealed the presence of tubular aggregates. Genetic analyses including a Whole Genome sequencing failed to reveal a genetic cause. In conclusion, we enlarge the clinical spectrum of tubular aggregate myopathy associated with central nervous system involvement.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 4","pages":"130-133"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of bariatric surgery on clinical outcome in LOPD.
Mattia Porcino, Fabio Guccione, Cristian Usbergo, Giuseppe Navarra, Antonio Toscano, Olimpia Musumeci
{"title":"Impact of bariatric surgery on clinical outcome in LOPD.","authors":"Mattia Porcino, Fabio Guccione, Cristian Usbergo, Giuseppe Navarra, Antonio Toscano, Olimpia Musumeci","doi":"10.36185/2532-1900-640","DOIUrl":"https://doi.org/10.36185/2532-1900-640","url":null,"abstract":"<p><strong>Objective: </strong>This case study aimed to evaluate the safety and efficacy of sleeve gastrectomy surgery in an obese patient with Late-onset Pompe disease (LOPD) and to explore the potential role of bariatric surgery in improving clinical outcomes and promoting a more physiological body composition when dietary and physical interventions fail.</p><p><strong>Methods: </strong>We describe a case of an obese LOPD patient who underwent sleeve gastrectomy, with clinical follow-up conducted to monitor motor and respiratory functions, as well as patient-reported outcome measures (PROMs), over time.</p><p><strong>Results: </strong>The surgery was well-tolerated without significant complications, and prolonged stability in motor and respiratory functions was observed. Furthermore, the patient reported improvements in quality of life and PROMs following weight loss.</p><p><strong>Conclusion: </strong>This case suggests that bariatric surgery, specifically sleeve gastrectomy, may be a safe and effective complementary strategy for weight loss in LOPD patients, offering benefits in functional stability, and quality of life.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 4","pages":"145-148"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.
Sabrina Lucchiari, Francesca Magri, Martina Rimoldi, Serena Pagliarani, Stefania Corti, Giacomo P Comi, Monica Sciacco
{"title":"Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.","authors":"Sabrina Lucchiari, Francesca Magri, Martina Rimoldi, Serena Pagliarani, Stefania Corti, Giacomo P Comi, Monica Sciacco","doi":"10.36185/2532-1900-612","DOIUrl":"https://doi.org/10.36185/2532-1900-612","url":null,"abstract":"<p><strong>Objective: </strong>Myotonic dystrophy type 2 (DM2; PROMM) is characterized by myotonia and muscle dysfunction, episodic muscle pain, proximal and axial weakness of the neck flexors. We describe the case of a young woman affected with a clinically silent form of DM2 disclosed by her return to physical exercise, a 7 km walk, after Covid-19 lockdown.</p><p><strong>Methods: </strong>The patient underwent neurological examination, serum CK dosage and electromyography after assessing the Emergency Room complaining of cramps and severe myalgia. Molecular screening for CNBP expansions was carried out on the patient and her family.</p><p><strong>Results: </strong>Clinical signs were generalized muscle weakness, more evident in the lower limb-girdle, myotonia at hands and foot fingers and dramatic elevation in CK levels. DM2 genetic assay revealed a pathological expansion in intron 1 of CNBP gene, confirming the clinical suspicion.</p><p><strong>Conclusions: </strong>The case we describe is the first, to our knowledge, addressing the impact of Covid pandemia on DM2 patients. In particular, we discuss the role of physical training in modulating the onset and the severity of clinical manifestations of DM2, since sustained regular exercise can mask the disease whereas prolonged suspension can cause massive muscle damage. Recent works investigate possible molecular mechanisms altered by forced physical inactivity, preventing skeletal muscle from adapting to the sudden, non-progressive training reactivation. Additional observations on DM2 patients, other myopathic subjects and elders will help clarify this important issue and provide useful behavioural advice.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 4","pages":"134-138"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The TRIM32 geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy.
Maria Caputo, Benedikt Schoser
{"title":"The <i>TRIM32</i> geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy.","authors":"Maria Caputo, Benedikt Schoser","doi":"10.36185/2532-1900-603","DOIUrl":"https://doi.org/10.36185/2532-1900-603","url":null,"abstract":"<p><strong>Objectives: </strong>Pathogenic TRIM32 gene variant was first described in 1976 in the Hutterite population of North America, presenting a phenotype of Limb-girdle muscular dystrophy R8 (LGMDR8, formerly termed LGMD2H). In recent years, different pathogenic mutations in this gene have been reported, with a spectrum of phenotypic heterogeneity, causing sarcotubular myopathy (STM), Bardet-Biedl Syndrome (BBS) and scapuloperoneal dystrophy. The genotype-phenotype correlation of this disease has been poorly reported.</p><p><strong>Methods: </strong>Here, we perform a literature review to analyze the genotype-phenotype correlation of the pathogenic variants in the TRIM32 gene. We also describe the clinical progression of two cases of STM in two patients presenting the D487N mutation in the TRIM32 gene.</p><p><strong>Results: </strong>We define the variety of LGMDR8 phenotypes associated with the identified TRIM32 variants so far.</p><p><strong>Conclusions: </strong>TRIM32 mutations are responsible for a broad spectrum of clinical phenotypes.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 4","pages":"139-144"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man. 麻黄碱治疗 COLQ 相关先天性肌无力综合征(CMS)的疗效:对一名 71 岁男性的纵向定量评估。
Giulio Gadaleta, Guido Urbano, Enrica Rolle, Ana Töpf, Liliana Vercelli
{"title":"Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.","authors":"Giulio Gadaleta, Guido Urbano, Enrica Rolle, Ana Töpf, Liliana Vercelli","doi":"10.36185/2532-1900-502","DOIUrl":"10.36185/2532-1900-502","url":null,"abstract":"<p><strong>Introduction and aims: </strong>We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.</p><p><strong>Results: </strong>A 71-year-old man was referred with limb-girdle/axial myopathy and fatigability since infancy. In his thirties, a decremental response was observed at 3Hz-nerve stimulation, although testing seronegative for anti-neuromuscular junction antibodies. Later, whole exome sequencing (WES)identified a homozygous likely pathogenic variant in COLQ. After 6-month ephedrine treatment, the patient doubled the distance in the 6-minute-walk test and reached 10 metres in half of the time. His forced vital capacity (FVC) and first-second-forced expiratory volume (FEV1) increased, as well as all patient-reported outcomes. At the 12-month mark, the overall improvement remained consistent/further enhanced, except for a slight decrease in FVC.</p><p><strong>Conclusions: </strong>This case confirms the efficacy of ephedrine treatment with global improvements in a COLQ-CMS in their late adulthood, demonstrated by quantitative outcome measures. Such indicators may be of interest in upcoming CMS therapeutical trials.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"116-118"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523849","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}
引用次数: 0
The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients. 对非卧床杜氏肌营养不良症患者进行的吉维诺司他表观遗传学拯救肌营养不良症功能研究。
Luca Bello, Valeria Sansone, Riccardo Masson, Claudio Bruno
{"title":"The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients.","authors":"Luca Bello, Valeria Sansone, Riccardo Masson, Claudio Bruno","doi":"10.36185/2532-1900-637","DOIUrl":"10.36185/2532-1900-637","url":null,"abstract":"","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"114-115"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523852","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}
引用次数: 0
Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level. 脊髓性肌萎缩症 I 型出生后早期阶段肌球蛋白重链在单纤维水平上的异常表达。
Carola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, Anders Oldfors
{"title":"Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.","authors":"Carola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, Anders Oldfors","doi":"10.36185/2532-1900-558","DOIUrl":"10.36185/2532-1900-558","url":null,"abstract":"<p><strong>Objective: </strong>We investigated myosin heavy chain (MyHC) isoform expression at early postnatal stages of clinically and genetically confirmed spinal muscular atrophy type 1 (SMA1) patients, in order to study the muscle fibre differentiation compared to age-matched controls at single fibre level.</p><p><strong>Methods: </strong>Open skeletal muscle biopsies were performed from the quadriceps muscle in four SMA1 patients and three age-matched controls. Standard techniques were used for immunohistochemistry of embryonic and foetal MyHCs. Type I, IIa and IIx MyHCs were assessed by applying quadruple immunofluorescence. Western blot was performed to analyse the amount of survival motor neuron (SMN) protein in the muscle samples.</p><p><strong>Results: </strong>There were profound and early alterations in MyHC expression from 7 days of life compared to age-matched controls. The expression of type IIx MyHC was completely lost in SMA1 and instead developmental isoforms remained highly expressed. Foetal MyHC was still, at 3.5 months of age, expressed in the majority of muscle fibres in SMA1 patients, whereas it was completely downregulated in age-matched controls. The level of SMN protein was reduced in all SMN1 patients.</p><p><strong>Conclusions: </strong>The abnormal pattern of MyHC expression in postnatal stages of SMA1 was observed early in the newborn period, which may have implications for the effects of gene therapy, since there are clear clinical benefits from early treatment. Whether such aberrant and delayed expression of MyHCs can be completely restored by postnatal gene therapy remains to be studied and may also have implications for new phenotypes that will evolve with new therapies.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"89-94"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523848","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}
引用次数: 0
Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience. 杜兴氏肌肉萎缩症患者的过渡和管理:基于意大利专家意见和实际经验的叙述性综述。
Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco
{"title":"Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience.","authors":"Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco","doi":"10.36185/2532-1900-447","DOIUrl":"10.36185/2532-1900-447","url":null,"abstract":"<p><strong>Objectives: </strong>Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X-linked disorder resulting in muscle wasting, progressive functional loss and cardiomyopathy. Therapeutic strategies feature glucocorticoid corticosteroids plus gene therapy/stop codon read-through, plus standards of care. Prolonged survival, delayed loss of ambulation (LoA), and innovative treatment prescriptions pose new clinical challenges, including identification of new outcome measures/targets and implementation of continuity of care.</p><p><strong>Methods: </strong>We report on the results of an Italian experts' meeting held in Rome, Italy on 20<sup>th</sup> April 2022. We aimed to: discuss challenges linked to transitioning from the ambulatory to the non-ambulatory phase, and from pediatric to adult care; collect experience on the importance of ongoing care and treatment in advanced disease stages and on the need to measure clinically relevant outcomes during disease progression after LoA.</p><p><strong>Results: </strong>Following LoA the main management focus shifts to cardiac, respiratory, orthopaedics, nutrition and upper limbs function. More data on clinical needs, available treatments, standards of care, frequency of follow-up, and transition should be collected in order to facilitate management optimisation. Shared protocols should be developed, especially to improve patients' management in the acute setting.</p><p><strong>Conclusions: </strong>Transition from paediatric to adult services and from the ambulatory to the non-ambulatory phase require a multidisciplinary approach and the Identification of clinically meaningful outcome measures, which should be described in long-term longitudinal studies.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"102-107"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523853","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}
引用次数: 0
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