Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

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 …

1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …

Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each …

We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic
dissection (TAAD) and patent ductus arteriosus (PDA), and mapped the disease locus to …

Mutations in different genes encoding sarcomeric proteins are responsible for 50–60% of
familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations …

The spatio-temporal expression patterns of Circular RNA (circRNA) across organs and
developmental stages are critical for its function and evolution analysis. However, they …

Objective: To identify causative genes for centronuclear myopathies (CNM), a
heterogeneous group of rare inherited muscle disorders that often present in infancy or early …

The myosin heavy chain (MyHC) is the molecular motor of muscle and forms the backbone
of the sarcomere thick filaments. Different MyHC isoforms are of importance for the …

Maintenance of skeletal and cardiac muscle structure and function requires precise control
of the synthesis, assembly, and turnover of contractile proteins of the sarcomere …