Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant-Reference-Cited by-同舟云学术

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

Published:2018-01-13 Issue:3 Volume:39 Page:383-388
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sandaradura Sarah A.¹²,Bournazos Adam¹^ORCID,Mallawaarachchi Amali³,Cummings Beryl B.⁴⁵,Waddell Leigh B.¹²,Jones Kristi J.¹²,Troedson Christopher⁶,Sudarsanam Annapurna⁶,Nash Benjamin M.⁷,Peters Gregory B.⁷,Algar Elizabeth M.⁸⁹,MacArthur Daniel G.⁴⁵,North Kathryn N.¹¹⁰¹¹,Brammah Susan¹²,Charlton Amanda¹³,Laing Nigel G.¹⁴¹⁵,Wilson Meredith J.³,Davis Mark R.¹⁴,Cooper Sandra T.¹²

Affiliation:

1. Institute for Neuroscience and Muscle Research; The Children's Hospital at Westmead; Sydney New South Wales Australia

2. Discipline of Paediatrics and Child Health; University of Sydney; Sydney New South Wales Australia

3. Department of Clinical Genetics; Children's Hospital at Westmead; Sydney New South Wales Australia

4. Analytic and Translational Genetics Unit; Massachusetts General Hospital; Boston Massachusetts

5. Broad Institute of Harvard and Massachusetts Institute of Technology; Cambridge Massachusetts

6. Department of Neurology; Children's Hospital at Westmead; Sydney New South Wales Australia

7. Sydney Genome Diagnostics; Children's Hospital at Westmead; Sydney New South Wales Australia

8. Centre for Cancer Research; Hudson Institute of Medical Research, Clayton, Victoria, Australia

9. Department of Molecular and Translational Science, Monash University; Clayton Victoria Australia

10. Murdoch Children's Research Institute; Melbourne Victoria Australia

11. Department of Paediatrics; Faculty of Medicine; University of Melbourne; Melbourne Victoria Australia

12. Electron Microscope Unit; Concord Repatriation General Hospital; Sydney New South Wales Australia

13. Department of Anatomical Pathology; Middlemore Hospital; Auckland New Zealand

14. Department of Diagnostic Genomics; PathWest Laboratory Medicine; QEII Medical Centre; Perth Western Australia Australia

15. Centre for Medical Research University of Western Australia; Harry Perkins Institute of Medical Research; Perth Western Australia Australia

Funder

National Human Genome Research Institute

National Eye Institute

National Health and Medical Research Council

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B;Alazami;Journal of Medical Genetics,2015

2. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B;Beck;American Journal of Medical Genetics Part A,2013

3. The functional consequences of intron retention: Alternative splicing coupled to NMD as a regulator of gene expression;Ge;Bioessays,2014

4. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1;Johnston;The American Journal of Human Genetics,2000

5. Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: Characterization of Tnnt3(tm2a(KOMP)Wtsi) mice;Ju;Genesis,2013

Cited by 54 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands;Neuromuscular Disorders;2024-10

2. Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report;Children;2024-07-16

3. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone;Annals of Clinical and Translational Neurology;2024-03-27

4. Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy;Journal of General Physiology;2024-02-20

5. Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease;Neurogenetics for the Practitioner;2024