myopathy$51388$ - vertaling naar italiaans
MYOPATHY CHARACTERIZED BY ABNORMALLY LOCATED NUCLEI IN SKELETAL MUSCLE CELLS
Centronuclear myopathy (including myotubular myopathy); Centronuclear myopathy, congenital; Congenital centronuclear myopathy
myopathy
n. miopatia (affezione del sistema muscolare)
Wikipedia
Centronuclear myopathy
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.
Symptoms of CNM include severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life.
