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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.
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.