X连锁晚发型延髓脊髓神经元病：散发病例
X-linked bulbo-spinal neuronopathy of late onset: sporadic case.
作者信息
Fabbri R, Martinelli P
出版信息
Ital J Neurol Sci. 1985 Mar;6(1):113-4. doi: 10.1007/BF02229230.
PMID:4039714
Abstract
We describe a sporadic case of a rare form of X-linked bulbo-spinal neuronopathy (BSN) of late onset. This case emphasizes the importance of recognizing the sporadic cases of this X-recessive disease for genetic counselling.
摘要
我们描述了一例散发的迟发性罕见X连锁型延髓脊髓神经元病（BSN）病例。该病例强调了识别这种X连锁隐性疾病散发病例对于遗传咨询的重要性。
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