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 …

In skeletal muscle, nebulin stabilizes and regulates the length of thin filaments, but the
underlying mechanism remains nebulous. In this work, we used cryo–electron tomography …

Nemaline myopathies are a heterogenous group of congenital myopathies caused by de
novo, dominantly or recessively inherited mutations in at least twelve genes. The genes …

Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each …

Troponin T (TnT) is a central player in the calcium regulation of actin thin filament function
and is essential for the contraction of striated muscles. Three homologous genes have …

Botryllus schlosseri is a colonial urochordate that follows the chordate plan of development
following sexual reproduction, but invokes a stem cell-mediated budding program during …

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 …

Myofibrillogenesis in striated muscles is a highly complex process that depends on the
coordinated assembly and integration of a large number of contractile, cytoskeletal, and …

Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the
NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal …