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 …

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle triggered by
volatile anesthetics or succinylcholine. It manifests as a potentially lethal hypermetabolic …

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 …

In skeletal muscle, the excitation-contraction (EC) coupling machinery mediates the
translation of the action potential transmitted by the nerve into intracellular calcium release …

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of
congenital myopathies. Historically, RYR1-RM classification and diagnosis have been …

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle
damage and release of intracellular muscle components into the blood stream leading to …

Background and purpose Although several recent studies have implicated RYR 1 mutations
as a common cause of various myopathies and the malignant hyperthermia susceptibility …