Protein

Making sense of missense variants in TTN -related congenital myopathies

10 days ago   |   By Springer

Abstract
Mutations in the sarcomeric protein titin, encoded by TTN , are emerging as a common cause of myopathies. The diagnosis of a TTN -related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN -related myopathies and the pathogenicity ascertainment of TTN missense variants. We identified 30 patients with a primary TTN -related congenital myopathy and two truncating...
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