| 1 | NEM5, TNNT1
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| Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
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| Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB.
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| Mol Genet Genomic Med 5(6):678-691. doi: 10.1002/mgg3.325. Epub 2017 Aug 21.
2017
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| 2 | NEM5, TNNT1
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| Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T.
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| Mondal A, Jin JP.
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| Front Physiol 7:449. eCollection 2016. Review.
2016
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| 3 | NEM5,TNNT1
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| Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
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| Wang X, Huang QQ, Breckenridge MT, Chen A, Crawford TO, Morton DH, Jin JP.
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| J Biol Chem 280(14):13241-9. Epub 2005 Jan 23. 2005
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| 4 | NEM1, NEM2, NEM3, NEM4, NEM5
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| Molecular classification of nemaline myopathies: nontyping specimens exhibit unique patterns of gene expression.
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| Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH.
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| Neurobiol Dis 15(3):590-600. 2004
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| 5 | NEM5, TNNT1
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| A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
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| Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaffer AA, Francomano CA, Biesecker LG.
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| Am J Hum Genet 67(4):814-21. 2000
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