| 1 | NEM4, TPM2
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| Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene.
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| Borovikov YS, Rysev NA, Karpicheva OE, Sirenko VV, Avrova SV, Piers A, Redwood CS.
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| Sci Rep 7(1):16797. doi: 10.1038/s41598-017-17076-9.
2017
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| 2 | NEM1, NEM4, TPM2, TPM3
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| Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
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| Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.
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| Hum Mutat 35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.
2014
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| 3 | NEM1, NEM4, TPM2, TPM3
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| Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
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| Ochala J, Gokhin DS, Pénisson-Besnier I, Quijano-Roy S, Monnier N, Lunardi J, Romero NB, Fowler VM.
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| Hum Mol Genet 21(20):4473-85. Epub 2012 Jul 13.
2012
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| 4 | NEM4, TPM2
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| Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
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| Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.
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| Neuromuscul Disord 22 Suppl 2:S137-47. doi: 10.1016/j.nmd.2012.06.347.
2012
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| 5 | NEM4, TPM2
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| Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
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| Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C.
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| Biochem J 442(1):231-9. doi: 10.1042/BJ20111030.
2012
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| 6 | NEM4, TPM2
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| A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation.
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| Ochala J, Iwamoto H, Larsson L, Yagi N.
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| Proc Natl Acad Sci U S A 107(21):9807-12. Epub 2010 May 10.PMID: 20457903 2010
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| 7 | NEM4, TPM2
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| New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
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| Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H.
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| Neurology 71(23):1896-901.
2008
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| 8 | NEM4, TPM2
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| Beta-tropomyosin mutations alter tropomyosin isoform composition.
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| Nilsson J, Tajsharghi H.
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| Eur J Neurol 15(6):573-8. Epub 2008 Apr 14.
2008
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| 9 | NEM4, TPM2
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| Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
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| Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A.
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| Arch Neurol 64(9):1334-8.
2007
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| 10 | 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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| 11 | TPM2, NEM4
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| Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
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| Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.
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| Neuromuscul Disord 12(2):151-8. 2002
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