Chautauqua County Home of Dunkirk, NY ratings, quality and inspection report. Compare Chautauqua County Home to other nearby nursing homes in New York. Show all results Hide results
Welcome. Myotubular Myopathy is a rare muscle condition which affects mostly boys at birth, and sometimes an even rarer form develops later in life affecting both boys and girls. It causes profound muscle weakness.
Pathophysiology. Limb-girdle muscular dystrophy (LGMD) protein defects occur in several pathways involved in the biologic function of muscle and can be divided into groups based on cellular localization., 20. Schematic of the sarcomere with labeled molecular components that are known to cause limb-girdle muscular dystrophy or myofibrillar myopathy. Mutations in actin and nebulin cause the congenital myopathy nemaline rod myopathy, and the mutations in myosin cause familial hypertrophic cardiomyopathy.