Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

Valérie Biancalana , Olivier Caron , Sabina Gallati , Frank Baas , Wolfram Kress , Giuseppe Novelli , Maria d'Apice , Clotilde Lagier-Tourenne , Anna Buj-Bello (1) , Norma Romero , Jean-Louis Mandel

1 Inserm U964 - CNRS UMR7104 - IGBMC - Centre for Integrative Biology - CBI

Domaines: Sciences du Vivant [q-bio]

Valérie Biancalana, Olivier Caron, Sabina Gallati, Frank Baas, Wolfram Kress, et al.. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Human Genetics, 2003, 112 (2), pp.135-142. ⟨10.1007/s00439-002-0869-1⟩. ⟨hal-04481790⟩