期刊: NEUROMUSCULAR DISORDERS, 2023; 33 (2)
Although mexiletine effectively treats myotonia, supply disruptions affected Europe between 2008- 2018. MyoPath was a mixed-methods, cross-sectional, ......
期刊: NEUROMUSCULAR DISORDERS, 2023; 33 (10)
Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is c......
期刊: NEUROMUSCULAR DISORDERS, 2023; 33 (5)
Overlap syndrome is a clinical entity of myositis concomitant with one or more collagen diseases such as systemic lupus erythematosus, systemic sclero......
期刊: NEUROMUSCULAR DISORDERS, 2023; 33 (7)
The three major collagen VI genes: COL6A1, COL6A2 , and COL6A3 encode microfibrillar components of extracellular matrices in multiple tissues includin......
期刊: NEUROMUSCULAR DISORDERS, 2023; 33 (7)
Titin-related myopathy is an emerging genetic neuromuscular disorder with a wide spectrum of clinical phenotypes. To date, there have not been reports......
期刊: NEUROMUSCULAR DISORDERS, 2023; 33 (9)
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune neuromuscular junction disorder, paraneoplastic in 55% of cases and commonly associated with......