Yoshioka M, Kuroki S, Ohkura K, Itagaki Y, Saida K
Neurology. 1987 May;37(5):860-3. doi: 10.1212/wnl.37.5.860.
We examined a 14-month-old boy with severe muscular hypotonia and weakness. Loss of tendon reflexes were noted at age 2 months. Right-sided heart failure and dyspnea during sleep developed at age 4 months. Muscle biopsy revealed selective hypoplasia of type II fibers and normal type I fibers. Intercostal and diaphragmatic muscles showed similar changes at necropsy and probably accented the respiratory failure.
我们检查了一名14个月大患有严重肌张力减退和肌无力的男孩。2个月大时发现腱反射消失。4个月大时出现右侧心力衰竭和睡眠期间呼吸困难。肌肉活检显示II型纤维选择性发育不全，I型纤维正常。尸检时肋间肌和膈肌显示出类似变化，可能加重了呼吸衰竭。
