The uptake of calcium into and extrusion of calcium from the mitochondrial matrix is a
fundamental biological process that has critical effects on cellular metabolism, signaling …

Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

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 …

Congenital muscular dystrophies (CMDs) are a group of inherited conditions defined by
muscle weakness occurring before the acquisition of ambulation, delayed motor milestones …

Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders …

Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has
traditionally included muscle biopsy, protein-based studies of muscle specimens, and …

Phosphoinositides are small phospholipids that control diverse cellular downstream
signaling events. Their spatial and temporal availability is tightly regulated by a set of …

Dystroglycanopathy is a group of muscular dystrophies with deficient glycosylation of alpha‐
dystroglycan (α‐DG). We recruited patients from 36 tertiary academic hospitals in China. In …

Abstract Introduction/Aims Currently, there are no straightforward guidelines for the clinical
and diagnostic management of hyperCKemia, a frequent and nonspecific presentation in …

The diagnostic and referral workflow for children with neuromuscular disorders is evolving,
particularly as newborn screening programs are expanding in tandem with novel therapeutic …