重症肌无力
线粒体肌病
肌肉活检
线粒体DNA
肌病
神经肌肉传递
医学
病理
生物
内科学
活检
胃肠病学
遗传学
基因
作者
Anna Rostedt Punga,Kati J. Ahlqvist,E. Bartoccioni,Flavia Scuderi,Mariapaola Marino,Anu Suomalainen,Hannu Kalimo,Erik Stålberg
标识
DOI:10.1016/j.clinph.2006.03.028
摘要
To compare the electrophysiological and histopathological features of immunological myasthenia gravis (MG) subtypes. Fifty MG patients underwent clinical examination, MuSK-Ab and AChR-Ab analysis. The majority underwent quantitative and single-fiber electromyography (QEMG, SFEMG), repetitive nerve stimulation and deltoid muscle biopsy. From muscle specimens with histological mitochondrial dysfunction, we amplified mitochondrial DNA (mtDNA). In specimens with mtDNA deletions, the nuclear gene POLG1 was sequenced. Five AChR-Ab seropositive [AChR(+)] and 5 seronegative [AChR(−)] patients were MuSK-Ab seropositive [MuSK(+)]. Five of 7 neurophysiologically examined MuSK(+) patients (71%) had proximal myopathic pattern, compared to 7 of 31 MuSK(−)/AChR(+) patients (23%) (P=0.012). SFEMG was abnormal in all examined MuSK(+) patients. All 7 biopsied MuSK(+) and 32 MuSK(−) patients (89%) had cytochrome c oxidase (COX) negative fibers. Three of five MuSK(+) and 13 of 20 MuSK(−) patients analyzed had multiple mtDNA deletions but no POLG1 mutations. Similar degree of SFEMG abnormalities was present in proximal muscles among MuSK(+) and AChR(+) patients. Proximal myopathy was over-represented in MuSK(+) patients; however, both MuSK(+) and MuSK(−) patients had mild myopathy with frequent mitochondrial abnormalities. The weakness in MuSK(+) patients is most likely due to disturbed neuromuscular transmission. The frequently encountered mitochondrial dysfunction in MG warrants further study.
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