Brett F M, Loring P, Caesar A, Burke M, Brennan R P, King M, Farrell M A
Department of Neuropathology, Beaumont Hospital, Dublin, Ireland.
Arch Pathol Lab Med. 1998 Jan;122(1):69-71.
To determine the prevalence of merosin deficiency in cases of unclassified congenital muscular dystrophy and to determine the temporal stability of merosin epitopes in fixed and stored archival material.
Using an antibody to human merosin we retrospectively studied 12 cases of undiagnosed muscular dystrophy from our files to determine the prevalence of merosin deficiency. Where fresh muscle was not available, unstained stored cryostat sections or destained archival stored sections were incubated with the merosin antibody.
Two of the 12 cases of undiagnosed muscular dystrophy were merosin-deficient. No difference in intensity of merosin staining was found between freshly cut cryostat sections and unstained stored cryostat sections. There was no difference in the intensity of merosin staining in sections archived for up to 10 years.
We conclude that 16% of unclassified muscular dystrophies in our study are due to merosin deficiency and that merosin antigenicity remains intact in archival stored muscle tissue, facilitating retrospective evaluation of patients in whom frozen muscle is not available. To our knowledge, this latter observation has not been reported previously.
确定未分类先天性肌营养不良病例中肌膜蛋白缺乏的患病率，并确定固定和储存的存档材料中肌膜蛋白表位的时间稳定性。
我们使用抗人肌膜蛋白抗体，对存档中12例未确诊的肌营养不良病例进行回顾性研究，以确定肌膜蛋白缺乏的患病率。若没有新鲜肌肉，则将未染色的储存低温切片或脱色的存档储存切片与肌膜蛋白抗体一起孵育。
12例未确诊的肌营养不良病例中有2例肌膜蛋白缺乏。新鲜切割的低温切片与未染色的储存低温切片之间，肌膜蛋白染色强度没有差异。存档长达10年的切片中，肌膜蛋白染色强度也没有差异。
我们得出结论，在我们的研究中，16%的未分类肌营养不良是由肌膜蛋白缺乏引起的，并且肌膜蛋白抗原性在存档储存的肌肉组织中保持完整，这便于对没有冷冻肌肉的患者进行回顾性评估。据我们所知，后一项观察结果此前尚未见报道。
