X-linked recessive myotubular myopathy with mutations
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2013-03-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-56-139.pdf |