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 undertook whole …