Congenital myopathies are a heterogeneous group of inherited muscle disorders,
characterized by the predominance of particular histopathological features on muscle
biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early
onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed
motor development are common in most forms. As a result, the diagnosis of a subtype of
congenital myopathy is largely based on the presence of specific structural abnormalities in …