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Myotubular Myopathy
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Overview

Myotubular myopathy (also called Centronuclear myopathy) is a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. In Myotubular myopathy the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery.

Symptoms of Myotubular myopathy 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.

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