Lazaro R P, Fenichel G M, Kilroy A W
Muscle Nerve. 1979 Sep-Oct;2(5):349-55. doi: 10.1002/mus.880020505.
We report four cases of congenital muscular dystrophy; all demonstrated hypotonia and multiple contractures at birth. Strength remained stationary or improved, but the tendency for contracture formation persisted. Brief small amplitude polyphasic potentials were recorded on electromyography, and muscle biopsy revealed extensive fat and/or collagen replacement, which was out of proportion to fiber necrosis or patient strength. The consistent clinical and pathologic features of these patients and others described in the literature justify considering this disorder to be a specific nosologic entity.
我们报告了4例先天性肌营养不良症；所有病例在出生时均表现为肌张力减退和多处挛缩。肌力保持稳定或有所改善，但挛缩形成的趋势持续存在。肌电图记录显示为短暂的小幅度多相电位，肌肉活检显示广泛的脂肪和/或胶原替代，其程度与纤维坏死或患者肌力不成比例。这些患者以及文献中描述的其他患者一致的临床和病理特征证明将这种疾病视为一种特定的疾病实体是合理的。
