22 下列那一項關於spinal muscular atrophy 的描述錯誤?
病兒會在嬰幼兒出現運動發展遲緩 病兒CPK 大多會明顯上升
病兒肌肉切片的dystrophin 表現量正常 病兒的遺傳包含autosomal dominance
AND B
Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons,[1][2] resulting in progressive muscular atrophy (wasting away) and weakness.
MOTOR NEURON IS THE PROBLEM!
YOU DONT EXPECT THE CPK TO GO UP
DYSTROPHIN SHOULD BE NORMAL: ABNORMAL IN
Dystrophin deficiency has been definitively established as one of the root causes of the general class of myopathies collectively referred to as muscular dystrophy. The large cytosolic protein was first identified in 1987 by Louis M. Kunkel [4], after the 1986 discovery of the mutated gene that causes Duchenne muscular dystrophy (DMD)
No comments:
Post a Comment