DNA Laboratory, GSTS Pathology, Guy's Hospital, London, UK.
Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004. Epub 2011 Dec 9.
X-linked myotubular myopathy is a predominantly severe congenital myopathy with central nuclei on muscle biopsy due to mutations in the MTM1 gene encoding myotubularin. We report a boy with typical features of X-linked myotubular myopathy. Sequencing of the MTM1 gene did not reveal any causative mutations. Subsequent MLPA analysis identified a duplication of MTM1 exon 10 both in the patient and his mother. Additional quantitative fluorescent PCR and long-range PCR revealed an additional large deletion (2536bp) within intron 10, 143bp downstream of exon 10, and confirmed the duplication of exon 10. Our findings suggest that complex rearrangements have to be considered in typically affected males with X-linked myotubular myopathy.
X 连锁肌小管肌病是一种主要的严重先天性肌病，肌肉活检显示中央核，由于编码肌小管素的 MTM1 基因突变。我们报告了一个具有 X 连锁肌小管肌病典型特征的男孩。MTM1 基因测序未发现任何致病突变。随后的 MLPA 分析显示患者及其母亲的 MTM1 外显子 10 均发生重复。额外的定量荧光 PCR 和长距离 PCR 显示 10 号内含子内存在一个额外的大片段缺失（2536bp），位于 10 号外显子下游 143bp，证实了 10 号外显子的重复。我们的发现表明，在 X 连锁肌小管肌病的典型男性患者中，必须考虑复杂的重排。
