Pearn J, Hudgson P
Lancet. 1978 May 20;1(8073):1059-61. doi: 10.1016/s0140-6736(78)90910-8.
A new variant of spinal muscular atrophy (S.M.A.), characterised by adolescent onset, gross hypertrophy of calves, and a slowly progressive clinical course, was found in 5 patients, 3 of them in a series of 102 cases being studied in North-East England. Biopsy and electrophysiological studies indicated the presence of chronic progressive degeneration of anterior-horn cells.
发现了一种脊髓性肌萎缩症(S.M.A.)的新变体,其特征为青春期发病、小腿明显肥大以及临床病程缓慢进展。在5名患者中发现了这种变体,其中3名患者来自英格兰东北部正在研究的102例病例系列。活检和电生理研究表明存在前角细胞的慢性进行性变性。