✦ LIBER ✦

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy

✍ Scribed by Christopher R. Pierson; Pankaj B. Agrawal; Jessica Blasko; Alan H. Beggs

Book ID: 116792828
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 579 KB
Volume: 17
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2007.03.010

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Erratum to “Myofiber size correlates wit

Erratum to “Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy” [Neuromuscular Disorders 17(7) (2007) 562–568]

✍ Christopher R. Pierson; Pankaj B. Agrawal; Jessica Blasko; Alan H. Beggs 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 50 KB

Extreme phenotypic variability in a Germ

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1

✍ Sabine Hoffjan; Charlotte Thiels; Matthias Vorgerd; Eva Neuen-Jacob; Jörg T. Epp 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 952 KB

Identification of a novel mutation in th

Identification of a novel mutation in the MTM1 gene associated with X-linked myotubular myopathy, in a Greek family

✍ L. Fidani; P. Karagianni; C. Tsakalidis; G. Mitsiakos; I. Hatziioannidis; V. Bia 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 55 KB

Identification of novel mutations in the

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

✍ Anna Buj-Bello; Valérie Biancalana; Céline Moutou; Jocelyn Laporte; Jean-Louis M 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

X-linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases to early postnatal death. The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is hi

Characterization of 34 novel and six kno

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

✍ Stephan M Tanner; Vreni Schneider; Nick S.T Thomas; Angus Clarke; Lazarus Lazaro 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 132 KB

X-linked myotubular myopathy: mutation R

X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths

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