Hereditary myosin myopathies

A Oldfors - Neuromuscular Disorders, 2007 - Elsevier
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.
They are caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes.
Mutations have been reported in two of the three MyHC isoforms expressed in adult limb
skeletal muscle: type I (slow/β-cardiac MyHC; MYH7) and type IIa (MYH2). The majority of
more than 200 dominant missense mutations in MYH7 are associated with …