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Myopathology in patients with a Noonan phenotype |
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| Authors: | W P de Boode B A Semmekrot H J ter Laak C J A M van der Burgt J M T Draaisma E J P Lommen R C A Sengers J M van Wijk-Hoek |
| Institution: | (1) Department of Pediatrics, University Hospital Nijmegen, 6500 HB Nijmegen, The Netherlands Tel.: +31 24 361 39 36; Fax: +31 24 361 91 23, NL;(2) Research Laboratory of Morphologic Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands, NL;(3) Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands, NL;(4) Department of Pediatric Cardiology, University Hospital Nijmegen, Nijmegen, The Netherlands, NL;(5) Department of Pediatrics, Sint Joseph Hospital, Veldhoven, The Netherlands, NL |
| Abstract: | Two patients with a Noonan phenotype and progressive hypertrophic obstructive cardiomyopathy are described, in whom abnormal histopathological changes in striated musculature were detected. In both patients an increased density of muscle spindles was found at biopsy. The significance of an increased density of muscle spindles in patients with Noonan phenotype can only be speculated. The question is raised of whether these changes are a distinct feature within the spectrum of patients with Noonan phenotype. Received: 10 July 1995 / Revised, accepted: 3 June 1996 |
| Keywords: | Noonan syndrome Muscle spindle Cardiomyopathy Hypotonia Myopathy |
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