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- W2891948965 abstract "X-Linked myotubular myopathy (XLMTM) is a congenital myopathy caused by mutations in MTM1 gene encoding a 3-phosphoinositides phosphatase myotubularin. Typically, XLMTM patients clinically develop marked generalized hypotonia and muscle weakness with respiratory insufficiency since birth and pathologically show small-size fibers with peripheral halo and centrally-placed nuclei in the muscle. We performed RNA-seq screening on a cohort of 9 undiagnosed cases who were pathologically diagnosed as myotubular myopathy but had no mutation in exonic regions in MTM1. Sanger sequencing was performed to identify deep intronic mutation. We then performed in vitro splicing experiments using hybrid minigene plasmid H492 to evaluate splicing abnormalities. Retentions of intronic sequence were found in 2 patients; between exons 5 and 6 in patient 1 and between exons 11 and 12 in patient 2, respectively. These intronic exonizations are predicted to cause frameshift and subsequently create premature stop codon in both patients. Point mutations in deep introns were found: in intron 5 (c.343-1384 G>C) in patient 1 and in intron 11 (c.1261-647 C>G) in patient 2. The in vitro splicing experiments with artificial minigene constructs confirmed both of the deep intronic mutations exclusively produced abnormal splicing products. We report 2 novel point mutations in the deep introns in MTM1, both of which cause exonization of intronic sequences, introducing a premature stop codon, leading to XLMTM." @default.
- W2891948965 created "2018-09-27" @default.
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- W2891948965 date "2018-10-01" @default.
- W2891948965 modified "2023-09-25" @default.
- W2891948965 title "CONGENITAL MYOPATHIES (CNM)" @default.
- W2891948965 doi "https://doi.org/10.1016/j.nmd.2018.06.165" @default.
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