Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel <it>BIN1 </it>stop mutation

by Kurul Semra, Çakmakçı Handan, Ortaç Ragıp, Yiş Uluç, Böhm Johann, Dirik Eray, Laporte Jocelyn
Published 2010-12-01

Functional analysis of the novel <it>TBX5 </it>c.1333delC mutation resulting in an extended TBX5 protein

by Ekman-Joelsson Britt-Marie, Vujic Mihailo, Craig Alexander, Heinritz Wolfram, Böhm Johann, Kohlhase Jürgen, Froster Ursula
Published 2008-10-01