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COMMENTS AND OPINIONS
Cardiac Involvement in Bethlem Myopathy—Reply
Anneke J. van der Kooi, MD, PhD;
Willem G. de Voogt, MD;
Marianne de Visser, MD
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In reply
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.
Not all tests could be performed in all patients because of logistic problems, which are not uncommon in a multicenter study across various European countries. Therefore, we opted for inclusion of patients with either cardiac or pulmonary investigations or both. Both investigations were done in 30 . . . [Full Text of this Article] AUTHOR INFORMATION
RELATED LETTER
Cardiac Involvement in Bethlem Myopathy
Josef Finsterer and Claudia Stöllberger
Arch Neurol. 2007;64(6):915.
EXTRACT
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RELATED ARTICLE
Cardiac and Pulmonary Investigations in Bethlem Myopathy
Anneke J. van der Kooi, Willem G. de Voogt, Enrico Bertini, Luciano Merlini, F. Beril Talim, Rabah Ben Yaou, Andoni Urtziberea, and Marianne de Visser
Arch Neurol. 2006;63(11):1617-1621.
ABSTRACT
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