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Paper Details

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
Eur J Hum Genet
10
2021
+5 position, 5' splice site, G, MTM1, MTM1 transcripts, Muscle RNA, NG_008199.1, X-linked myotubular myopathy, XLMTM, c, c.1468-577A, congenital myopathy, deficiency of myotubularin protein, hypotonia, lipid phosphatase, muscle RNA, myotubularin, myotubularin protein, non, nonsense codon, premature, pseudo-exon, respiratory insufficiency, weakness
Author NameAffiliation
Beryl B CummingsMassachusetts General Hospital
Beryl B CummingsCenter for Mendelian Genomics, Broad Institute of Harvard & MIT
Beryl B CummingsBroad Institute of Harvard & MIT
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of Harvard & MIT
Daniel G MacArthurCenter for Mendelian Genomics, Broad Institute of Harvard & MIT
Daniel G MacArthurHarvard Medical School
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of Harvard & MIT
Daniel G MacArthurCenter for Mendelian Genomics, Broad Institute of Harvard & MIT
Daniel G MacArthurHarvard Medical School
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