García-Bragado F, Hernández M, de Miguel C, López Unzu A, Martínez B
Unidad de neuropatología (Anatomía Patológica), H. Virgen del Camino, Pamplona.
Arch Neurobiol (Madr). 1990 May-Jun;53(3):134-7.
We present a case of X-linked myotubular myopathy in a boy who died neonatally because of respiratory insufficiency. Five biopsy revealed predominance and hypotrophy of type 1 fibres with central nuclei in the majority of them, without perinuclear ATPasa activity. Electron microscopic study corroborated these features and showed the absence of perinuclear myofibres. In the postmortem examination there was no involvement of others organs including the central nervous system.
我们报告一例X连锁性肌管性肌病患儿，该患儿因呼吸功能不全于新生儿期死亡。五次活检显示1型纤维占优势且萎缩，大多数纤维有中央核，无核周ATP酶活性。电子显微镜研究证实了这些特征，并显示无核周肌纤维。尸检发现其他器官包括中枢神经系统均未受累。
