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View article: Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1‐related rhabdomyolysis or myalgia
Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1‐related rhabdomyolysis or myalgia Open
Introduction/Aims Ryanodine receptor 1 (RYR1)‐related myopathies associated with variants in the RYR1 gene present with a wide range of symptoms and severity. Two of the milder phenotypes associated with dominant pathogenic variants in RYR…
View article: Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants
Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants Open
Objective: To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic DMD variant, we prospectively examined 53 women, assuming that some of these women—despite of the recessive X-linked inher…
View article: Energy metabolism during exercise in patients with β‐enolase deficiency (<scp>GSDXIII</scp>)
Energy metabolism during exercise in patients with β‐enolase deficiency (<span>GSDXIII</span>) Open
Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonische…
View article: Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy Open
Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of p…