pediatrics
Congenital Myopathies
Centronuclear Myopathy
Centronuclear myopathy is characterized by an abundance of central nuclei on muscle biopsy. This myopathy may be X-linked, Autosomal Dominant , or X-linked forms are the most common and most severe, and most affected children do not survive beyond the first year of life. Autosomal dominant forms typically manifest in adolescence or adulthood with exercise-induced myalgia, bifacial weakness, ptosis, and external ophthalmoplegia. 