Journal article
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
SA Sandaradura, A Bournazos, A Mallawaarachchi, BB Cummings, LB Waddell, KJ Jones, C Troedson, A Sudarsanam, BM Nash, GB Peters, EM Algar, DG MacArthur, KN North, S Brammah, A Charlton, NG Laing, MJ Wilson, MR Davis, ST Cooper
Human Mutation | WILEY | Published : 2018
DOI: 10.1002/humu.23385
Abstract
A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibers with striking nemaline rods and hypertrophy of slow fibers that were ultrastructurally normal. A neuromuscular gene panel identified a homozygous essential splice variant in TNNT3 (chr11:1956150G > A, NM_006757.3:c.681+1G > A). TNNT3 encodes skeletal troponin-T fast and is associated with autosomal dominant distal arthrogryposis. TNNT3 has not previously been associated with nemaline myopathy (NM), a rare congenital myopathy linked to defects in proteins associated with thin filament structure and regulation. cDNA stu..
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Awarded by National Human Genome Research Institute
Funding Acknowledgements
National Health and Medical Research Council, Grant/Award Numbers: 1002147, 1048816, 1075451, 1080587; National Heart, Lung, and Blood Institute, Grant/Award Number: UM1 HG008900 National Human Genome Research Institute; National Eye Institute.