Bertini E, Bosman C, Bevilacqua M, Ricci E, Gagliardi G M, Parisi F, Servidei S, Dionisi-Vici C, Ballerini L
Department of Metabolism, Bambino Gesu Hospital, Rome, Italy.
Eur J Pediatr. 1990 Sep;149(12):856-8. doi: 10.1007/BF02072073.
A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.
本文描述了一名患有伴有神经肌肉受累的限制性心肌病的女孩。形态学检查显示多核肌病模式，电子显微镜检查显示骨骼肌和心脏中均有电子致密颗粒状和丝状物质的肌浆积聚。这种特殊的电子致密物质对应于肌肉和心肌纤维中结蛋白增加，并通过免疫组织化学证实。
