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 …

Human genes have a variable length. Those having a coding sequence of extraordinary
length and a high number of exons were almost impossible to sequence using the traditional …

Nemaline myopathy (NM) is a rare neuromuscular disorder associated with congenital or
childhood-onset of skeletal muscle weakness and hypotonia, which results in limited motor …

Nebulin is a skeletal muscle protein that associates with the sarcomeric thin filaments and
has functions in regulating the length of the thin filament and the structure of the Z-disk. Here …

Nemaline myopathy (NM) is characterized by skeletal muscle weakness and atrophy. No
curative treatments exist for this debilitating disease. NM is caused by mutations in proteins …

Background Congenital myopathies are a group of heterogeneous inherited disorders,
mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of …

Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies
caused by mutations in different genes associated with the structural and functional proteins …

The practice of discarding at sea is a major issue for many commercial fisheries. Perez Roda
et al.(2019) report that in the Mediterranean and Black Sea a biomass of at least 275,000 …

Humans manifest around 10 000 different rare diseases. This might, however, be an
underestimation. Rare diseases are individually rare, but when all rare diseases are taken …

Nemaline Myopathy (NM) is one of the most common forms of congenital myopathy. There
are currently no therapies. Mutations in the gene nebulin (NEB) accounts for at least 50% of …