摘要
远端型遗传性运动神经元病(dHMN)是少见的遗传性周围神经病,特征是由于脊髓前角运动神经元退行性变引起对称性的肌无力和肌萎缩。dHMN是遗传性异质性疾病,呈常染色体显性遗传(AD),也可呈常染色体隐性遗传(AR)或X连锁隐性遗传(XR)。dHMN的疾病基因已定位9型,其中5型已被克隆。
Distal hereditary motor neuropathy(dHMN) is a rare genetic disorder of the peripheral nervous system. It is characterized by the muscle weakness and atrophy induced by the degeneration of anterior horn cells of the spinal cord. dHMN,a heterogeneous disease,exhibits various modes of inheritance: dominant or recessive autosomal,or recessive X-linked recessive inheritance. To date,9 gene types have been identified in dHMN and 5 have been cloned.
出处
《中华神经医学杂志》
CAS
CSCD
2005年第6期632-635,共4页
Chinese Journal of Neuromedicine
基金
国863计划项目(2004227040)
国家自然科学基金(30300200)
