X-linked recessive myotubular myopathy with mutations

• Autores principales: Young-Mi Han (Autor), Kyoung-Ah Kwon (Autor), Yun-Jin Lee (Autor), Sang-Ook Nam (Autor), Kyung-Hee Park (Autor), Shin-Yun Byun (Autor), Gu-Hwan Kim (Autor), Han-Wook Yoo (Autor)
• Formato: Libro
• Publicado: Korean Pediatric Society, 2013-03-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagn...