X-linked recessive myotubular myopathy with mutations

• Main Authors: Young-Mi Han (Author), Kyoung-Ah Kwon (Author), Yun-Jin Lee (Author), Sang-Ook Nam (Author), Kyung-Hee Park (Author), Shin-Yun Byun (Author), Gu-Hwan Kim (Author), Han-Wook Yoo (Author)
• Format: Book
• Published: Korean Pediatric Society, 2013-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...