Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle
diseases caused by genetic mutations, which are currently defined and categorized mainly …

Treatments for disabling and life-threatening hereditary muscle disorders are finally close to
becoming a reality. Research has thus far focused primarily on recessive forms of muscle …

Alternative splicing (AS) disruption has been linked to disorders of muscle development, as
well as muscular atrophy. However, the precise changes in AS patterns that occur during …

The cardiac thin filament proteins troponin and tropomyosin control actomyosin formation
and thus cardiac contractility. Calcium binding to troponin changes tropomyosin position …

Myofibers are highly specialized contractile cells of skeletal muscles, and dysregulation of
myofiber morphogenesis is emerging as a contributing cause of myopathies and structural …

Background Spondylocostal dysostosis is a rare genetic disorder caused by mutations in
DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder …

The last decade has been highlighted by the increased use of next-generation DNA
sequencing technology to identify novel human disease genes. A critical downstream part of …

Cell fate specification is essential for every major event of embryogenesis, and subsequent
cell maturation ensures individual cell types acquire specialized functions. The mechanisms …