Cantello R, Bergamini L, Troni W, Riccio A, Chiado I, Palmucci L, de Marchi M
J Neurol. 1985;232(2):102-8. doi: 10.1007/BF00313909.
A 32-year-old female presented with progressive external ophthalmoplegia (PEO) and multisystem abnormalities, strikingly associated with myotonia and muscle hypertrophy. These two features were not found in her brother, who had a complex neuromuscular disorder complicating chronic PEO. In both subjects muscle biopsy revealed "ragged-red" fibres and myofibres containing glycogen granules, which were never bound by membranes. A severe demyelinating neuropathy was revealed by electrophysiological and morphological studies. Cranial CT scan showed extensive demyelination of the cerebral white matter. Genetic studies demonstrated that this familial syndrome is transmitted as an autosomal recessive trait.
一名32岁女性出现进行性眼外肌麻痹（PEO）和多系统异常，显著伴有肌强直和肌肉肥大。她患有复杂神经肌肉疾病并伴有慢性PEO的哥哥未出现这两个特征。对这两名患者进行肌肉活检均发现“破碎红”纤维和含有糖原颗粒的肌纤维，这些糖原颗粒从未被膜包裹。电生理和形态学研究显示存在严重的脱髓鞘性神经病变。头颅CT扫描显示脑白质广泛脱髓鞘。遗传学研究表明，这种家族性综合征以常染色体隐性性状遗传。
