Severe acute respiratory syndrome coronavirus (SARS-CoV2) and associated COVID-19
infection continue to impact patients globally. Patients with underlying health conditions are at …

Background:Wild-type transthyretin amyloidosis (wtATTR) is an important cause of heart
failure (HF); however, the prevalence and clinical significance of neurologic complications …

Objective To better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and
recommend a phenotypic classification. Methods This cohort study was performed at the …

Introduction/Aims Consensus criteria to formalize the diagnosis of amyotrophic lateral
sclerosis (ALS) and refine clinical trial populations have evolved. The recently proposed Gold …

Objective To describe the real‐world treatment persistence (defined as the continuation of
medication for the prescribed treatment duration), demographics and clinical characteristics, …

Single-cell technologies are a method of choice to obtain vast amounts of cell-specific
transcriptional information under physiological and diseased states. Myogenic cells are resistant …

Introduction/Aims Up to 25% of patients with myasthenia gravis (MG) have refractory disease
despite trials of multiple immunosuppressants. Several case series describe acetylcholine …

Colchicine is a medication most commonly used in the treatment of gout and familial
mediterannean fever. A rare complication of therapy is toxicity causing proximal myopathy and …

We present a patient who had two allogeneic bone marrow transplantations for acute
lymphocytic leukemia. She developed slowly progressive limb-girdle weakness in the context of …

Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused
by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes …