X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation

X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 inf...

Descripción completa

Detalles Bibliográficos
Autores principales: Jeon, Ji Hyun, Namgung, Ran, Park, Min Soo, Park, Kook In, Lee, Chul, Lee, Jin Sung, Kim, Se Hoon
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101044/
https://www.ncbi.nlm.nih.gov/pubmed/21488203
http://dx.doi.org/10.3349/ymj.2011.52.3.547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101044/
https://www.ncbi.nlm.nih.gov/pubmed/21488203
http://dx.doi.org/10.3349/ymj.2011.52.3.547

Ejemplares similares