Echenne B, Rivier F, Tardieu M, Brive M, Robert A, Pages A M, Pons F, Mornet D
Department of Neuropediatrics, Höpital St. Eloi, Montpellier, France.
Neurology. 1998 May;50(5):1477-80. doi: 10.1212/wnl.50.5.1477.
Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.
两名兄弟姐妹及另外两名无血缘关系的患者患有先天性肌无力和营养不良性改变，但肌肉活检时肌纤蛋白、抗肌萎缩蛋白及抗肌萎缩蛋白相关蛋白的免疫细胞化学染色结果正常。所有人均有明显的共济失调以及小脑萎缩或发育不全。脑白质和皮质结构看起来正常。
