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Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey

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, ......

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14

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......

Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome

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......

Homozygous splice variant (c.1741-6G > A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

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......

Titin related myopathy with ophthalmoplegia. A novel phenotype

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......

Cancer detection after a 9-year course of Lambert-Eaton myasthenic syndrome complicated by anti-Hu associated limbic encephalitis

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......

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