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 …

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

Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle
dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several …

Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity,
characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to …

Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some
patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a …

Children with reduced mobility in utero are at increased risk of osteopenia and pathological
fractures, as a secondary effect of severe fetal muscular inactivity. Immobilization reduces …

In an effort to discover new regulators of muscle function, we identified a novel muscle-
specific protein, Klhl40. Genetic deletion of Klhl40 in mice results in a nemaline myopathy …