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X-linked recessive myotubular myopathy with MTM1 mutations

Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo

Clin Exp Pediatr. 2013;56(3):139-142. Published online March 18, 2013

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 diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

DOI: https://doi.org/10.3345/kjp.2013.56.3.139

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