Miopatía miotubular ligada al X: una breve puesta al día

María de los Ángeles Cambrón-Carmona
Medical Student, Medicine and Nursery Faculty, University of Cordoba, Spain


X-linked myotubular myopathy, included in the centronuclear myopathies (CNM ), is a severe congenital disorder caused by mutations of the gene MTM 1. 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.

Keywords: myotubular myopathy, centronuclear myopathy, X hromosome,
satellite cells, MTM 1 gen, myotubular.
Palabras clave: miopatía miotubular, miopatía centronuclear, cromosoma X, célula satélite, gen MTM 1, miotubularina.



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