| 1 | 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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| 2 | NEM1, TPM3
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| Novel TPM3 mutation in a family with cap myopathy and review of the literature.
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| Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG.
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| Neuromuscul Disord 24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Review. 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 | NEM1, TPM3
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| Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
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| Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C.
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| Eur J Hum Genet 16(9):1055-61. Epub 2008 Apr 2.
2008
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| 5 | NEM1, TPM3
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| Mutations in TPM3 are a common cause of congenital fiber type disproportion.
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| Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN.
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| Ann Neurol 63(3):329-37. 2008
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| 6 | NEM1, TPM3
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| A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
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| Pénisson-Besnier I, Monnier N, Toutain A, Dubas F, Laing N.
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| Neuromuscul Disord 17(4):330-7. Epub 2007 Mar 21.
2007
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| 7 | 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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| 8 | NEM1, TPM3
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| Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
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| Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH.
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| Neurology 59(4):613-7. 2002
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| 9 | NEM1, TPM3
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| A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
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| Corbett MA, Robinson CS, Dunglison GF, Yang N, Joya JE, Stewart AW, Schnell C, Gunning PW, North KN, Hardeman EC.
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| Hum Mol Genet 10(4):317-28. 2001
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| 10 | MEN1, NEM1
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| Menin, a gene product responsible for multiple endocrine neoplasia type 1, interacts with the putative tumor metastasis suppressor nm23.
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| Ohkura N, Kishi M, Tsukada T, Yamaguchi K.
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| Biochem Biophys Res Commun 282(5):1206-10. 2001
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| 11 | NEM1, TPM3
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| Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.
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| Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG.
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| Neuromuscul Disord 9(8):573-9. 1999
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| 12 | NEM1, NEM2
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| Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
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| North KN, Laing NG, Wallgren-Pettersson C.
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| J Med Genet 34(9):705-13. 1997
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| 13 | TPM3, NEM1
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| Assignment of the human alpha-tropomyosin gene TPM3 to 1q22-q23 by fluorescence in situ hybridization.
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| Wilton SD, et al.
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| Cytogenet Cell Genet 68 : 122-124. 1995
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| 14 | NEM1, TPM3
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| A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
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| Laing NG, et al.
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| Nat Genet 9 : 75-79. 1995
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| 15 | NEM1
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| The NEM1 autosomal dominant nemaline myopathy gene linkage region is between Mfd215 and APOA2. (abstr)
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| Akkari PA, et al.
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| Cytogenet Cell Genet 67 : 166. 1994
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| 16 | NEM1
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| Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1.
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| Laing NG, et al.
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| Am J Hum Genet 50 : 576-583. 1992
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| 17 | NEM1
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| Assignment of nemaline myopathy (MIM 161800, NEM1) to chromosome 1.
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| Laing NG, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1858. 1991
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