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...

Descripción completa

Detalles Bibliográficos
Autores principales: Han, Young-Mi, Kwon, Kyoung-Ah, Lee, Yun-Jin, Nam, Sang-Ook, Park, Kyung-Hee, Byun, Shin-Yun, Kim, Gu-Hwan, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611049/
https://www.ncbi.nlm.nih.gov/pubmed/23559977
http://dx.doi.org/10.3345/kjp.2013.56.3.139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611049/
https://www.ncbi.nlm.nih.gov/pubmed/23559977
http://dx.doi.org/10.3345/kjp.2013.56.3.139

Ejemplares similares