SIGNIFICANCE OF MUSCLE BIOPSIES IN NEURONAL CEROID-LIPOFUSCINOSES
SIGNIFICANCE OF MUSCLE BIOPSIES IN NEURONAL CEROID-LIPOFUSCINOSES
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DOI：
10.1136/jnnp.38.10.985
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发表时间：
1975-01-01
影响因子：
11
通讯作者：
PILZ, H
中科院分区：
文献类型：
--
作者：
GOEBEL, HH;ZEMAN, W;PILZ, H
肌肉标本在尸检时获得的神经元蜡样脂褐质沉积症（NCL），三个青少年和一个晚婴儿型，和肌肉活检从第五例患者与青少年型的NCL，都显示出典型的NCL曲线体内的肌纤维。色素是自发荧光的。看来骨骼肌是通过活检诊断这些疾病的可靠组织来源。
Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for the diagnosis of these disorders by biopsy.