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Springer (part of Springer Nature), Acta Neuropathologica, 6(92), p. 597-602

DOI: 10.1007/s004010050566

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Myopathology in patients with a Noonan phenotype

Journal article published in 1996 by W. P. de Boode, W. P. de Boode ORCID, B. A. Semmekrot, H. J. ter Laak, C. J. A. M. van der Burgt, H. J. ter Laak, C. J. A. van der Burgt, C. J. A. M. van der Burgt, J. M. T. Draaisma ORCID, E. J. P. Lommen, R. C. A. Sengers, J. M. van Wijk-Hoek, J. M. van Wijk-Hoek
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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.