Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Somatic mutations have been extensively characterized in breast cancer, but the effects of
these genetic alterations on the proteomic landscape remain poorly understood. Here we …

Background The severity of coronavirus disease 2019 (COVID-19) caused by the severe
acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly heterogeneous. Studies …

For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of
morbidity and mortality. The management of cardiac disease in NMDs is made challenging …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

In cardiomyocytes, invaginations of the sarcolemmal membrane called t-tubules are critically
important for triggering contraction by excitation-contraction (EC) coupling. These structures …

Background: Enhanced diastolic calcium (Ca2+) release through ryanodine receptor type-2
(RyR2) has been implicated in atrial fibrillation (AF) promotion. Diastolic sarcoplasmic …

Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …

The sarcomere is the basic unit of the myofibrils, which mediate skeletal and cardiac Muscle
contraction. Two transverse structures, the Z-disc and the M-band, anchor the thin (actin and …