Targeted protein degradation (TPD) is an emerging therapeutic modality with the potential to
tackle disease-causing proteins that have historically been highly challenging to target with …

Mammalian development demands precision. Millions of molecules must be properly
located in temporal order, and their function regulated, to orchestrate important steps in cell …

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 …

Skeletal muscle is one of the most abundant and highly plastic tissues. The ubiquitin–
proteasome system (UPS) is recognised as a major intracellular protein degradation system …

The nemaline myopathies constitute a large proportion of the congenital or structural
myopathies. Common to all patients is muscle weakness and the presence in the muscle …

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction
and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic …

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 …

BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in
critically ill newborns, hoping to improve their clinical care and replace time-consuming …

Our understanding of genes that cause skeletal muscle disease has increased
tremendously over the past three decades. Advances in approaches to genetics and …