X-linked myotubular myopathy: A brief update
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Archivos de Medicina Universitaria
Materia
Myotubular myopathy Centronuclear myopathy X chromosome Satellite cells MTM1 gen Myotubular Miopatía miotubular Miopatía centronuclear Cromosoma X Células satélites Miotubularina
Date
2016Referencia bibliográfica
Cambrón Carmona, María de los Ángeles. X-linked myotubular myopathy: A brief update. AMU, 4: 14-18
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.
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