Nemaline myopathy (NM) is the most common of several congenital myopathies that present
with skeletal muscle weakness and hypotonia. It is clinically heterogeneous and the …

Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity.
The clinical presentation of affected individuals ranges from severe perinatal muscle …

Mutations in α-skeletal actin (ACTA1) underlie several congenital muscle disorders
including nemaline myopathy (NM). Almost all ACTA1-NM patients have normal cardiac …

Nemaline Myopathy with Intranuclear Rods is a rare variant of nemaline myopathy, due in
almost all instances to mutation of ACTA1, the gene encoding skeletal muscle α-actin. We …

Objective To investigate seven congenital myopathy patients from six families: one French
Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients …

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder
characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal …

Nemaline myopathy is the most common congenital myopathy and is caused by mutations in
various genes such as ACTA1 (encoding skeletal α-actin). It is associated with limb and …

Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical
spectrum ranges from severe cases with antenatal or neonatal onset and early death to late …

Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle α-
actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline …

Objective Nemaline myopathy, one of the most common congenital myopathies, is
associated with mutations in various genes including ACTA1. This disease is also …