麦克劳德综合征：五个具有新突变的新家系。
McLeod syndrome: Five new pedigrees with novel mutations.
机构信息
Department of Neurology, New York Presbyterian-Weill Cornell Medical Center, New York, NY, USA.
Department of Neurology, New York Presbyterian-Weill Cornell Medical Center, New York, NY, USA.
出版信息
Parkinsonism Relat Disord. 2019 Jul;64:293-299. doi: 10.1016/j.parkreldis.2019.04.022. Epub 2019 May 2.
OBJECTIVE
To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations.
METHODS
This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center.
RESULTS
Five novel mutations are reported in this Case series. New clinical findings include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, presence of obstructive sleep apnea (OSA), and one patient of Vietnamese ethnicity.
CONCLUSIONS
We expand on the clinical and genetic spectrum of MLS demonstrating the clinical variability of MLS.
目的
呈现五个带有新型 XK 基因突变的 McLeod 综合征（MLS）家系，回顾该疾病的文献，并讨论这些新突变的典型和非典型临床特征。
方法
这是一个多中心回顾性研究，纳入五个具有新型基因突变的 MLS 病例。从每个中心获得基因型和表型信息。
结果
本病例系列报告了五个新型突变。新的临床发现包括无症状性肌酸激酶（CK）水平升高持续时间延长、发声抽搐、阻塞性睡眠呼吸暂停（OSA）存在以及一名越南裔患者。
结论
我们扩展了 MLS 的临床和遗传谱，证明了 MLS 的临床变异性。
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