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X-inactivation patterns in carriers of X-linked myotubular myopathy

✍ Scribed by M Kristiansen; G.P Knudsen; S.M Tanner; M McEntagart; H Jungbluth; F Muntoni; C Sewry; S Gallati; K.H Ørstavik; C Wallgren-Pettersson


Book ID
117669753
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
76 KB
Volume
13
Category
Article
ISSN
0960-8966

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MTM1 mutations in X-linked myotubular my
✍ Jocelyn Laporte; Valérie Biancalana; Stephan M. Tanner; Wolfram Kress; Vreni Sch 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 427 KB

X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosph