Filamentous actin (F-actin) is the major protein of muscle thin filaments, and actin
microfilaments are the main component of the eukaryotic cytoskeleton. Mutations in different …

Objective: To assess the natural history of congenital myopathies (CMs) due to different
genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 …

Nemaline myopathy is characterized by muscle weakness and the presence of rod-like
(nemaline) bodies. The genetic etiology of nemaline myopathy is becoming increasingly …

Importance New genomic strategies can now be applied to identify a diagnosis in patients
and families with previously undiagnosed rare genetic conditions. The large family …

Myopathies are among the major causes of mortality in the world. There is no complete cure
for this heterogeneous group of diseases, but a sensitive, specific, and fast diagnostic tool …

Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and
affects either fast myofibers, slow myofibers, or both. However, an animal model for …

TPM3: mainly dominant, missense variants; 1, 2 however, some recessive variants have
been described. 3, 4 A 1bp recessive deletion occurs as a founder variant in the Turkish …

The congenital myopathies are a heterogeneous group of neuromuscular disorders defined
by distinctive morphologic abnormalities of skeletal muscle with weakness and hypotonia …

Introduction Nemaline myopathy is a rare genetic muscle disorder defined by the presence
of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most …

Nemaline myopathy is a clinically and genetically heterogenous disorder that may present
from birth to late adulthood. Patients with nemaline myopathy exhibit weakness of proximal …