Ryan M M, Taylor P, Donald J A, Ouvrier R A, Morgan G, Danta G, Buckley M F, North K N
Department of Neurology, University of Sydney, Sydney, Australia.
Am J Hum Genet. 1999 Oct;65(4):1104-13. doi: 10.1086/302588.
We describe a family with a novel disorder characterized by episodic muscle weakness and X-linked inheritance. Eight males in three generations demonstrate the characteristic features of the disorder. Episodes of severe muscle weakness are typically precipitated by febrile illness and affect the facial and extraocular musculature, as well as the trunk and limbs, and resolve spontaneously over a period of weeks to months. Younger members of the family are normal between episodes but during relapses show generalized weakness, ptosis, and fluctuations in strength. In some cases, fatigability can be demonstrated. The proband has late-onset chronic weakness and fatigability. The clinical phenotype has features suggestive both of the congenital myasthenic syndromes and of ion-channel disorders such as the periodic paralyses. We have localized the responsible gene to chromosome Xp22.3, with a maximum two-point LOD score of 4. 52 at a recombination fraction of.0, between OACA2 and DXS9985.
我们描述了一个患有新型疾病的家族，其特征为发作性肌无力且呈X连锁遗传。三代中的八名男性表现出该疾病的特征性表现。严重肌无力发作通常由发热性疾病诱发，累及面部和眼外肌，以及躯干和四肢，并在数周数月内自发缓解。家族中较年轻成员在发作间期正常，但复发时表现为全身无力、上睑下垂及肌力波动。在某些情况下，可证明存在疲劳性。先证者有迟发性慢性无力和疲劳性。临床表型既有先天性肌无力综合征的特征，也有离子通道疾病如周期性麻痹的特征。我们已将致病基因定位到Xp22.3染色体，在OACA2和DXS9985之间，重组率为0时，最大两点LOD评分为4.52。
