Congenital myopathy Ehlers-Danlos overlap syndrome caused by the deficiency of an enzyme involved in protein folding in the endoplasmic reticulum: identification and characterization of a novel disorder.

Fauth C.;Baumann M.;Giunta C.;Krabichler B.;Rüschendorf F.;Bönnemann C. G.;Bittner R. E.;COLOMBI, Marina;ZOPPI, Nicoletta;Quijano Roy S.;Romero N. B.;Carlier R. Y.;Muntoni F.;Cirak S.;Schreiber G.;Amberger A.;Deutschmann A.;Straub V.;Rohrbach M.;Rostásy K.;Karall D.;ZschockeJ

2011-01-01