Article
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
European journal of human genetics : EJHG - 1 May 2017
Perić Stojan, Glumac Jelena Nikodinović, Töpf Ana, Savić-Pavićević Dušanka, Phillips Lauren, Johnson Katherine, Cassop-Thompson Marcus, Xu Liwen, Bertoli Marta, Lek Monkol, MacArthur Daniel, Brkušanin Miloš, Milenković Sanja, Rašić Vedrana Milić, Banko Bojan, Maksimović Ružica, Lochmüller Hanns, Stojanović Vidosava Rakočević, Straub Volker
Abstract excerpt
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core...
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