Myopathology in patients with a Noonan phenotype.
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.
de Boode
W P
WP
Department of Pediatrics, University Hospital Nijmegen, The Netherlands.
Semmekrot
B A
BA
ter Laak
H J
HJ
van der Burgt
C J
CJ
Draaisma
J M
JM
Lommen
E J
EJ
Sengers
R C
RC
van Wijk-Hoek
J M
JM
D002312:Cardiomyopathy, Hypertrophic / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure; D009470:Muscle Spindles / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology*; D009206:Myocardium / Q000473:pathology*; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype