A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy

  title={A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy},
  author={Elizabeth Harris and Ana Topf and A Vihola and Anni Evil{\"a} and Rita Barresi and Judith Hudson and Peter Hackman and Brian Herron and Daniel MacArthur and Hanns Lochm{\"u}ller and Katharine M. D. Bushby and Bjarne A. Udd and Volker Straub},
  journal={Neuromuscular disorders : NMD},
  volume={27 11},
Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing. We… CONTINUE READING
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