Calì A, Berni Canani M, De Luca L, Terraciano L, Foggia L, Corradino G, Berni Canani R, Chiummariello S
Istituto di Anatomia Patologica, IIa Facoltà dell'Università di Napoli, Italia.
Pediatr Med Chir. 1991 Jul-Aug;13(4):345-8.
The Authors during an extensive applications of nasal brushing in infancy according to Rutland and Cole, remarked--first time in literature--the contemporary presence in a child of the nemaline myopathy syndrome and immotile cilia syndrome. Supposing the possibility that in other myopathy may be present the same ciliary immotile syndrome, they studied with nasal brushing three cases of Werdnig-Hoffman syndromes: but they presented normal ciliary conformation. The Authors suppose that in case in future it should be found in other cases of nemaline myopathy the contemporary presence of dinein arms lack, it should be demonstrated that this syndrome takes derivation from a genetic alteration both of the muscular apparatus and the ciliary mobility system of bronchial epithelius.
作者在按照拉特兰和科尔的方法对婴儿进行广泛的鼻腔刷洗应用过程中，首次在文献中指出，一名儿童同时存在杆状体肌病综合征和不动纤毛综合征。鉴于其他肌病可能也存在相同的纤毛不动综合征，他们对3例韦尔尼克 - 霍夫曼综合征患者进行了鼻腔刷洗研究：但这些患者的纤毛形态正常。作者推测，如果未来在其他杆状体肌病病例中发现同时存在动力蛋白臂缺失的情况，那么应该证明这种综合征源于肌肉组织和支气管上皮纤毛运动系统的基因改变。
