✦ LIBER ✦

P2.49 Myopathies with mutations in anoctamin 5: Phenotype and gene mutations in a French cohort

✍ Scribed by A. Behin; P. Laforêt; M. Cossée; N. Deburgrave; L. Orhant; J.C. Kaplan; T. Stojkovic; F. Leturcq; B. Eymard

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Miyoshi-like distal myopathy with mutati

✍ Bouquet, F.; Cossée, M.; Béhin, A.; Deburgrave, N.; Romero, N.; Leturcq, F.; Eym 📂 Article 📅 2012 🏛 Masson Editeur 🌐 English ⚖ 734 KB

P2.52 Dysferlin and anoctamin 5 mutation

✍ M. de Visser; W.H.J. Linssen; J.H.J. Wokke; R. Bernard; N. Lévy; H.B. Ginjaar 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 46 KB

Novel mutations in the anoctamin 5 gene

✍ Little, Ann A.; Mckeever, Paul E.; Gruis, Kirsten L. 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 612 KB

P.P.5 01 RYR1 genotype–phenotype correla

✍ H. Zhou; H. Jungbluth; S. Treves; E. Bertini; V. Straub; K. Bushby; C. Sewry; F. 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 47 KB

P5.44 Novel mutation in PNPLA2 presentin

✍ A. Martinez Arroyo; B. Naberhaus; W.C. Liang; I. Nishino; E. Alonso; A. Jucgla; 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 47 KB

P.9.5 A novel NEFL gene mutation is iden

✍ Agrawal, P.B.; Joshi, M.; Marinakis, N.; Ciarlini, P.D.; Schmitz-Abe, K.; Markia 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 58 KB