Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive? TNNT3 TNNT3 ?splice variant

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作者： Sandaradura Sarah A. ^[1] ; Bournazos Adam ^[2] ; Mallawaarachchi Amali ^[3] ; Cummings Beryl B. ^[4] ; Waddell Leigh B. ^[5] ; Jones Kristi J. ^[6] ; Troedson Christopher ^[7] ; Sudarsanam Annapurna ^[8] ; Nash Benjamin M. ^[9] ; Peters Gregory B. ; Algar Elizabeth M. ; MacArthur Daniel G. ; North Kathryn N. ; Brammah Susan ; Charlton Amanda ; Laing Nigel G. ; Wilson Meredith J. ; Davis Mark R. ; Cooper Sandra T.

作者单位： Institute for Neuroscience and Muscle ResearchThe Children's Hospital at WestmeadSydney,New South ^[1] Department of Clinical GeneticsChildren's Hospital at WestmeadSydney,New South Wales,Australia ^[2] Department of NeurologyChildren's Hospital at WestmeadSydney,New South Wales,Australia ^[3] Department of Anatomical PathologyMiddlemore HospitalAuckland,New Zealand ^[4] Department of Diagnostic GenomicsQEII Medical CentrePerth,Western Australia,Australia ^[5] Sydney Genome DiagnosticsChildren's Hospital at WestmeadSydney,New South Wales,Australia ^[6] Analytic and Translational Genetics UnitMassachusetts General HospitalBoston,Massachusetts ^[7] Electron Microscope UnitConcord Repatriation General HospitalSydney,New South Wales,Australia ^[8] Centre for Cancer ResearchHudson Institute of Medical Research, Clayton, Victoria, Australia ^[9]

关键词 genetics neuromuscular disease nemaline myopathy TNNT3 troponin T‐fast

发布时间 2020-11-27

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