We thank Drs Finsterer and Stöllberger for their critical comments. In our multicenter, cross-sectional European study, cardiac and pulmonary investigations were performed to evaluate the cardiac and pulmonary function.1 Cardiac involvement was postulated in Bethlem myopathy because of the collagen VI expression in the heart, although a previous cross-sectional study2 and 2 autopsy studies on 3 patients did not reveal cardiac abnormalities.3,4 Respiratory involvement was thought to be infrequent, but from our experience and the case report by Haq et al,5 early diaphragmatic involvement seemed possible.
van der Kooi AJ, de Voogt WG, de Visser M. Cardiac Involvement in Bethlem Myopathy—Reply. Arch Neurol. 2007;64(6):915-916. doi:10.1001/archneur.64.6.915-b