Cardiovascular disease remains the leading cause of morbidity and mortality in the
developed world. In recent decades, extraordinary effort has been devoted to defining the …

The management of Duchenne muscular dystrophy (DMD) has changed considerably over
the last few decades. Standards of care have recently been updated, based on systematic …

Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by
degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is …

Popeye domain containing protein 1 (POPDC1) is a highly conserved transmembrane
protein essential for striated muscle function and homeostasis. Pathogenic variants in the …

Objective To study the genetic and phenotypic spectrum of patients harboring recessive
mutations in BVES. Methods We performed whole-exome sequencing in a multicenter …

Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular
disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and …

Objectives: Describe the key features of sinus bradycardia. Outline how the diagnosis of
sinus bradycardia is made on ECG. Review how a patient with sinus bradycardia will most …

Autosomal recessive limb-girdle muscular dystrophy 25 (LGMDR25) is a recently defined
adult-onset muscular dystrophy due to loss-offunction mutations in the blood vessel …

Objectives: Outline the risk factors of developing a junctional rhythm. Review the
pathophysiology of junctional rhythms. Explain the differential diagnosis of junctional rhythm …

Purpose Patients with neuromuscular disorders (NMDs) are at increased risk of
perioperative complications. The objective of this scoping review was to examine emerging …