Key result
The coexistence of second TTN mutations, including novel frameshift and missense mutations, explains the more severe and complex phenotypes observed in patients with tibial muscular dystrophy.
Population
8 patients of 7 European families with previously reported titin gene mutations causing tibial muscular…
Design
Case_series
Authors
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May prompt expanded TTN variant analysis in severe titinopathies; leaves open confirmation in larger cohorts.
Observational (n=8)
Yes
The coexistence of second TTN mutations may constitute a common mechanism explaining phenotype variability and severity in titinopathies.
Evilä et al. (2014) conducted an observational in Titinopathies (tibial muscular dystrophy) (n=8). Second titin (TTN) mutations was evaluated on Molecular cause of the variant phenotypes. The coexistence of second TTN mutations, including novel frameshift and missense mutations, explains the more severe and complex phenotypes observed in patients with tibial muscular dystrophy.
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