The dynamic actin cytoskeleton, consisting of six actin isoforms in mammals and a variety of
actin binding proteins is essential for all developmental processes and for the viability of the …

Mutations in the skeletal muscle actin gene, ACTA1 are responsible for up to 20% of
congenital myopathies with a variety of pathologies that includes nemaline myopathy …

The ACTA1 gene encodes skeletal muscle α‐actin, which is the predominant actin isoform in
the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for …

While TPM2 mutations identified so far in muscular diseases were all associated with a
dominant inheritance pattern, we report the identification of a homozygous null allele …

The currently recognized two forms of “anabolic” protein aggregate myopathies, that is,
defects in development, maturation and final formation of respective actin and myosin …

Nemaline myopathy is among the most common congenital myopathies. We describe for the
first time a novel double de novo mutation in two adjacent codons resulting in two amino …

Nemaline myopathy is a neuromuscular disorder, characterized by muscle weakness and
hypotonia and is, in 20% of the cases, caused by mutations in the gene encoding α-skeletal …

In skeletal muscle, the sarcomeric α-actinins (α-actinin-2 and-3) are a major component of
the Z-line and crosslink actin thin filaments to maintain the structure of the sarcomere. Based …

Idiopathic adult‐onset nemaline myopathy is a rare condition of unknown etiology that
usually presents with proximal weakness. This case study reports a 60‐year‐old woman …

Objectives: To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal
muscle biopsy. Methods: A consanguineous couple, with a history of a child with a clinical …