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- etimología
Qué (quién) es myotubular myopathy - definición
MYOPATHY CHARACTERIZED BY ABNORMALLY LOCATED NUCLEI IN SKELETAL MUSCLE CELLS
Centronuclear myopathy (including myotubular myopathy); Centronuclear myopathy, congenital; Congenital centronuclear myopathy
X-linked myotubular myopathy
MEDICAL CONDITION
Myotubular myopathy; Myotubular Myopathy
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with myotubularin 1.
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.
Nemaline myopathy
CONGENITAL STRUCTURAL MYOPATHY CHARACTERIZED BY GENERALLY NON-PROGRESSIVE MUSCLE WEAKNESS OF VARYING SEVERITY
Nemaline Myopathy; Rod myopathy; Myopathies, nemaline; Nemaline body disease; Nemaline rod myopathy; Nemaline Myopathy, Amish Type; Amish nemaline myopathy; Nemaline myopathy, Amish type
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's life to some extent.
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.
