Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy

Confirmation of prenatal diagnosis resul

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

✍ Stephan M. Tanner; Jocelyn Laporte; Christophe Guiraud-Chaumeil; Sabina Liechti- 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 2 views

X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations