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 …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

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 …

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

Muscle contraction upon nerve stimulation relies on excitation–contraction coupling (ECC)
to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle …

Congenital myopathies are a clinically and genetically heterogeneous group of conditions
that most commonly present at or around the time of birth with hypotonia, muscle weakness …

Ca V 1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of
skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type …

SH3 and cysteine‐rich domain‐containing protein 3 (STAC3) is an essential component of
the skeletal muscle excitation–contraction coupling (ECC) machinery, though its role and …

The skeletal muscle Ca2+ release channel, also known as ryanodine receptor type 1
(RyR1), is the largest ion channel protein known and is crucial for effective skeletal muscle …

Myotubular myopathy (MTM) is a severe X-linked disease without existing therapies. Here,
we show that tamoxifen ameliorates MTM-related histopathological and functional …