Bevilacqua, Jorge A.;Monnier, N.;Bitoun, M.;Eymard, B.;Ferreiro, A.;Monges, S.;Lubieniecki, F.;Taratuto, A. L.;Claeys, K. G.;Marty, I.;Fardeau, M.;Guicheney, P.;Lunardi, J.;Romero, N. B.;Laquerrière, A.
(2011)
Aims: To report the clinical, pathological and genetic
findings in a group of patients with a previously not
described phenotype of congenital myopathy due to
recessive mutations in the gene encoding the typ....