Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of
congenital myopathies. Historically, RYR1-RM classification and diagnosis have been …

Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each …

Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders
named after the Greek word for thread, nema. The diagnosis is based on muscle weakness …

The main histological abnormality in congenital fiber type disproportion (CFTD) is
hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate …

Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline
myopathy, cap myopathy, core‐rod myopathy, congenital fiber‐type disproportion, distal …

Skeletal muscle is a unique tissue because of its structure and function, which requires
specific protocols for tissue collection to obtain optimal results from functional, cellular …

Cofilin-2, a small actin-binding protein and member of the AC protein family that includes
cofilin-1 and destrin, is predominantly expressed at sarcomeres in skeletal and cardiac …

In this review, we focus on congenital myopathies, which are a genetically heterogeneous
group of hereditary muscle diseases with slow or minimal progression. They are mainly …

The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type
1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 …