The myosin heavy chain (MyHC) is the molecular motor of muscle and forms the backbone
of the sarcomere thick filaments. Different MyHC isoforms are of importance for the …

Hereditary myosin myopathies have emerged as a new group of muscle diseases with
highly variable clinical features and onset during fetal development, childhood or adulthood …

Maintenance of skeletal and cardiac muscle structure and function requires precise control
of the synthesis, assembly, and turnover of contractile proteins of the sarcomere …

Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain
(myosin-7), has attracted considerable interest as a result of its fundamental functions in …

Congenital myopathies are a heterogeneous group of inherited muscle disorders,
characterized by the predominance of particular histopathological features on muscle …

Obiettivo. La continua scoperta di nuovi sottotipi di patologie neuromuscolari rende
necessaria un'analisi di imaging adeguata. Ci si prefigge di descrivere specifici modelli di …

Congenital fiber-type disproportion is a form of congenital myopathy that may be best
viewed as a syndrome rather than as a formal diagnosis. The central histologic abnormality …

Myofibrillar myopathies (MFMs) are rare inherited or sporadic progressive neuromuscular
disorders with considerable clinical and genetic heterogeneity. In the current study, we have …

Objective: To identify the gene and specific mutation underlying hyaline body myopathy in
the family studied. Methods: A microsatellite-based whole genome scan was performed …

Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of
subsarcolemmal inclusions of myosin in the majority of type I muscle fibers, and has been …