Would you recommend muscle or nerve biopsy in a patient with amyoplasia congenita?
Answer from: at Community Practice
No, I would not for at least 2 reasons. The probability of getting a quality sample is very low, and it is most likely that no muscle would be obtained as the name of the disorder implies (amyoplasia). Furthermore, the likelihood of finding a genetic cause for this is VERY low. In fact, in using WES...