Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …

DNM1L encodes dynamin‐related protein 1 (DRP1/DLP1), a key component of the
mitochondrial fission machinery that is essential for proper functioning of the mammalian …

Protein coats are supramolecular complexes that assemble on the cytosolic face of
membranes to promote cargo sorting and transport carrier formation in the endomembrane …

Background Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous
and have traditionally been refractive to genetic diagnosis. The widespread availability of …

Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited
neuromuscular disorders characterized by clinical features of a congenital myopathy and …

Regulation of skeletal muscle development and organization is a complex process that is
not fully understood. Here, we focused on amphiphysin 2 (BIN1, also known as bridging …

Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …

Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-
function mutations in its gene cause centronuclear myopathies. Here, we investigate the …

The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and
trafficking. DNM2 is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle …