Unexpected gene expression findings in the titinopathy mouse model FINmaj-KI using RNA-Seq

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Heterozygous dominant mutations in the C-terminal part of the sarcomeric protein titin cause tibial muscular dystrophy (TMD; OMIM: #600334). In Finland, the most common mutation is an 11-bp insertion/deletion called FINmaj and homozygosity of the FINmaj mutation cause a much more severe limb-girdle phenotype (LGMD2J; OMIM: #608807). Gene expression changes caused by this mutation have previously been studied in patient muscle biopsies already showing significant muscle pathology and the early changes caused by titin mutations were therefore beyond reach.

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