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 …

Background: Congenital myopathies are rare neuromuscular disorders presenting with a
wide spectrum of clinical features, including long bone fractures (LBFs) that negatively …

Defects in transcriptional and cell cycle regulation have emerged as novel
pathophysiological mechanisms in congenital neuromuscular disease with the recent …

Background Congenital myopathies are severe genetic diseases with a strong impact on
patient autonomy and often on survival. A large number of patients do not have a genetic …

Introduction Nonimmune hydrops fetalis (NIHF) has varied etiology. We assessed the
etiological spectrum and evaluated the utility of fetal whole exome sequencing (fWES) for …

Congenital titinopathy has recently emerged as one of the most common congenital muscle
disorders. Objective To better understand the presentation and clinical needs of the under …

Objective Recently, the ASC‐1 complex has been identified as a mechanistic link between
amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the …

Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) is a rare autosomal
recessive neuromuscular disorder characterized by arthrogryposis multiplex congenita and …

Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic
variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator …

Activating signal co-integrator complex 1 (ASCC1) acts with ASCC-ALKBH3 complex in
alkylation damage responses. ASCC1 uniquely combines two evolutionarily ancient …