@misc{10481/69343,
year = {2016},
url = {http://hdl.handle.net/10481/69343},
abstract = {X-linked myotubular myopathy, included in the
centronuclear myopathies (CNM), is a severe
congenital disorder caused by mutations of the
gene MTM1. With a recessive hereditary pattern
linked to the X chromosome, this disorder
shows a varied symptomatology and a specific
histopathological pattern. The current treatment
of this rare disease is still undergoing research,
although gene therapy is being focalized.},
publisher = {Archivos de Medicina Universitaria},
keywords = {Myotubular myopathy},
keywords = {Centronuclear myopathy},
keywords = {X chromosome},
keywords = {Satellite cells},
keywords = {MTM1 gen},
keywords = {Myotubular},
keywords = {Miopatía miotubular},
keywords = {Miopatía centronuclear},
keywords = {Cromosoma X},
keywords = {Células satélites},
keywords = {Miotubularina},
title = {X-linked myotubular myopathy: A brief update},
author = {Cambrón Carmona, María de los Ángeles},
}