Fidziańska A, Warlo I, Goebel H H
Department of Neurology, Medical School, Polish Academy of Sciences, Warsaw.
Neuropediatrics. 1994 Jun;25(3):158-61. doi: 10.1055/s-2008-1073015.
Muscle specimens from two baby males with fatal X-linked recessive (XLR) form of central nuclear myopathy (CNM) were studied by immunochemistry using cell surface molecules (N-CAM) and by electron microscopy. In both neonates muscle fibres with morphology of myotubes strongly expressed N-CAM. The expression of N-CAM in non regenerating postnatal human muscle suggests that neonatal X-linked fatal form of CNM is characterized by arrest or delay of maturation of muscle fibres.
对两名患有致命性X连锁隐性（XLR）型中央核肌病（CNM）的男婴的肌肉标本进行了研究，采用细胞表面分子（N-CAM）免疫化学方法和电子显微镜观察。在两名新生儿中，具有肌管形态的肌纤维均强烈表达N-CAM。N-CAM在出生后未再生的人类肌肉中的表达表明，新生儿X连锁致命型CNM的特征是肌纤维成熟停滞或延迟。
