25Apr 2021
Making sense of missense variants in TTN -related congenital myopathies

Making sense of missense variants in TTN -related congenital myopathies

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...

  • #neurology

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