HIGHLIGHTS
- who: Martin Rees from the (UNIVERSITY) have published the research work: Making sense of missense variants in TTN-related congenital myopathies, in the Journal: (JOURNAL)
- what: The authors present a comprehensive approach to the assessment of_(in particular missense) TTN variants in the context of suggestive clinico-pathological features. The authors observed that all missense mutations in the study show negative mCSM values, from - 0.15 to - 2.82 kcal/mol, indicative of a destabilising effect. In this study focussing on patients presenting within the congenital myopathy (CM) spectrum, the authors provide further evidence for . . .
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