X-linked recessive myotubular myopathy with MTM1 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: | Online |
| Language: | English |
| Published: |
The Korean Pediatric Society
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611049/ |