Mollica F, Romeo M A, di Gregorio F, Grasso A, Pavone L
Arch Fr Pediatr. 1980 Mar;37(3):173-5.
Five out of 89 sicilian children with homozygous thalassemia major had central nervous system signs but they were probably not due to the disease. Much more commonly peripheral nerve or muscle involvement was detected. Among 51 patients who had detailed clinical and electrophysiological studies (EMG and nerve conduction studies) 20 (39.2%) had clinical signs of neuro-muscular disease and five others had electrophysiological abnormalities only. Serum CPK was normal in all cases. The results suggest that muscle disease in thalassemia major is mostly of neurogenic origin.
89名患有重型纯合子地中海贫血的西西里儿童中，有5名出现中枢神经系统症状，但这些症状可能并非由该疾病引起。更常见的是检测到周围神经或肌肉受累。在51名进行了详细临床和电生理研究（肌电图和神经传导研究）的患者中，20名（39.2%）有神经肌肉疾病的临床症状，另外5名仅有电生理异常。所有病例的血清肌酸磷酸激酶均正常。结果表明，重型地中海贫血中的肌肉疾病大多起源于神经源性。
