Heuss D, Engelhardt A, Lochmüller H, Göbel H, Neundörfer B
Neurohistologisches Labor der Neurologischen Universitätsklinik Erlangen, Germany.
Virchows Arch. 1994;425(1):101-5. doi: 10.1007/BF00193957.
We report on the expression of growth associated protein (GAP)43 and neural cell adhesion molecule (NCAM) in congenital fibre type disproportion (CFTD) with myopathological additional signs of interstitial myositis. We assume that sarcolemmal GAP43 in developmental disordered myocytes plays a role in maintenance of growth morphology. In muscular dystrophy light microscopical evaluation reveals no GAP43 immunoreactivity in regenerating fibres. The expression of GAP43 seems to be a characteristic feature of CFTD. The expression of NCAM, particularly in the sarcolemma of small muscle fibres of CFTD, indicates a functional state of permanent partial denervation. Whether the steroid-responsive interstitial myositis is pathogenetically related to CFTD or a coincidental inflammation is not known. Because of the clinical and myopathological data the differential diagnosis of Emery-Dreifuss muscular dystrophy is considered.
我们报告了生长相关蛋白（GAP）43和神经细胞黏附分子（NCAM）在伴有间质性肌炎肌病理附加体征的先天性纤维类型比例失调（CFTD）中的表达情况。我们推测，发育异常的肌细胞中肌膜GAP43在维持生长形态方面发挥作用。在肌肉营养不良症中，光镜评估显示再生纤维中无GAP43免疫反应性。GAP43的表达似乎是CFTD的一个特征性表现。NCAM的表达，尤其是在CFTD小肌纤维的肌膜中，表明存在永久性部分失神经的功能状态。类固醇反应性间质性肌炎在发病机制上是否与CFTD相关或只是巧合的炎症尚不清楚。基于临床和肌病理数据，考虑对埃默里-德雷福斯肌营养不良症进行鉴别诊断。
