Myopathology in patients with a Noonan phenotype

被引：21

作者：

deBoode, WP

Semmekrot, BA

terLaak, HJ

vanderBurgt, CJAM

Draaisma, JMT

Lommen, EJP

Sengers, RCA

vanWijkHoek, JM

机构：

[1] UNIV NIJMEGEN HOSP,DEPT PEDIAT,NL-6500 HB NIJMEGEN,NETHERLANDS

[2] UNIV NIJMEGEN HOSP,RES LAB MORPHOL NEUROL,NL-6500 HB NIJMEGEN,NETHERLANDS

[3] UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,NL-6500 HB NIJMEGEN,NETHERLANDS

[4] UNIV NIJMEGEN HOSP,DEPT PEDIAT CARDIOL,NL-6500 HB NIJMEGEN,NETHERLANDS

[5] SINT JOSEPH HOSP,DEPT PEDIAT,VELDHOVEN,NETHERLANDS

来源：

ACTA NEUROPATHOLOGICA | 1996年 / 92卷 / 06期

关键词：

Noonan syndrome; muscle spindle; cardiomyopathy; hypotonia; myopathy;

D O I：

10.1007/s004010050566

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：597 / 602

页数：6

共 29 条

[1] NOONAN SYNDROME - THE CHANGING PHENOTYPE [J].