Journal
CLINICAL CASE REPORTS
Volume 9, Issue 7, Pages -Publisher
WILEY
DOI: 10.1002/ccr3.4478
Keywords
autosomal recessive; centronuclear myopathy; de novo; TTN
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The emergence of rare de novo TTN variants due to next-generation sequencing poses challenges in clinical interpretation, especially in patients with recessive titinopathy. This study offers a useful approach to identify compound heterozygous mutations with a de novo variant.
Next-generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.
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