Article
A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
Neuromuscular disorders : NMD - 1 Nov 2017
Harris Elizabeth, Töpf Ana, Vihola Anna, Evilä Anni, Barresi Rita, Hudson Judith, Hackman Peter, Herron Brian, MacArthur Daniel, Lochmüller Hanns, Bushby Kate, Udd Bjarne, Straub Volker
Abstract excerpt
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...
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