摘要
X-linked myotubular myopathy is a predominantly severe congenital myopathy with central nuclei on muscle biopsy due to mutations in the m>MTM1m> gene encoding myotubularin. We report a boy with typical features of X-linked myotubular myopathy. Sequencing of the m>MTM1m> gene did not reveal any causative mutations. Subsequent MLPA analysis identified a duplication of m>MTM1m> exon 10 both in the patient and his mother. Additional quantitative fluorescent PCR and long-range PCR revealed an additional large deletion (2536xA0;bp) within intron 10, 143xA0;bp 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.