Centronuclear myopathy

Centronuclear myopathies are a group of congenital myopathies in which cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery. Symptoms include severe hypotonia, hypoxia requiring breathing assistance, and scaphocephaly; among the centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth and is considered a congenital myopathy, though some centronuclear myopathies may present later in life. Other reported features include low muscle tone, respiratory complications, delayed developmental milestones and possible ptosis or ophthalmoplegia. Genetic forms include X-linked recessive disease from mutations in the MTM1 gene, autosomal recessive disease from mutations in the BIN1, RYR1 or TTN genes, and autosomal dominant disease from mutations in the DNM2 gene. Its ICD-10 code is G71.2.