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 …

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 …

Myotonic dystrophy is the most common muscular dystrophy in adults and the first
recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) …

Regulation of intracellular calcium (Ca 2+) is critical in all cell types. The ryanodine receptor
(RyR), an intracellular Ca 2+ release channel located on the sarco/endoplasmic reticulum …

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of
neuromuscular disease, ranging from various congenital myopathies to the malignant …

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 TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from
the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been …

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 …

Informed consent is a legal doctrine that in the United States can be traced to early 20th-
century legal precedence, whereby physicians are held liable for a battery (impermissible …