Case Reports
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Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report
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Impact of bariatric surgery on clinical outcome in LOPD
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Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71 year-old-man
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A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
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Sequential treatment with nusinersen, Zolgensma® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
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An unusual way to improve lung function in congenital myopathies: the power of singing
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Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report
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Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
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Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry
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Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam
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Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report
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Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report
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A novel compound heterozygous mutation in PYGM gene associated with McArdle’s disease
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Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports
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Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review