✦ LIBER ✦

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

✍ Scribed by H Jungbluth; C.A Sewry; A Buj-Bello; M Kristiansen; K.H Ørstavik; A Kelsey; A.Y Manzur; E Mercuri; C Wallgren-Pettersson; F Muntoni

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Case presentation of a boy with X-linked

✍ S. Lindal; I.H. Rasmussen; I. Lund; M. Lorentzen; C. Hapnes; H. Bomann 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 128 KB

Skewed X-inactivation in a manifesting c

✍ S. M. Tanner; K. H. Ørstavik; M. Kristiansen; D. Lev; T. Lerman-Sagie; M. Sadeh; 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 94 KB

Necklace fibers as histopathological mar

✍ Juliana Gurgel-Giannetti; Edmar Zanoteli; Eralda Luiza de Castro Concentino; Oso 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 576 KB

Muscle function in A canine model of X-l

✍ Robert W. Grange; Jon Doering; Erin Mitchell; Melanie N. Holder; Xuan Guan; Meli 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Characterization of mutations in fifty N

✍ Gail E. Herman; Kevin Kopacz; Wei Zhao; Patti L. Mills; Aida Metzenberg; Soma Da 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB

Communicated by

X-linked myotubular myopathy: mutation R

📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB