User menu

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Bibliographic reference Lamont, Phillipa J ; Wallefeld, William ; Hilton-Jones, David ; Udd, Bjarne ; Argov, Zohar ; et. al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.. In: Human Mutation, Vol. 35, no. 7, p. 868-879 (2014)
Permanent URL http://hdl.handle.net/2078.1/150753
  1. Armel Thomas Z., Leinwand Leslie A., Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes, 10.1016/j.yjmcc.2009.10.011
  2. Borg Kristian, Åhlberg Gabrielle, Anvret Maria, Edström Lars, Welander distal myopathy – an overview, 10.1016/s0960-8966(98)00008-x
  3. Buvoli Massimo, Buvoli Ada, Leinwand Leslie A., Effects of Pathogenic Proline Mutations on Myosin Assembly, 10.1016/j.jmb.2011.11.042
  4. Cancilla P. A., Kalyanaraman K., Verity M. A., Munsat T., Pearson C. M., Familial myopathy with probable lysis of myofibrils in type I fibers, 10.1212/wnl.21.6.579
  5. Chai J., Liu C., Lai P., Yee W., C.P.1.15 Myosin storage myopathy with a novel slow-skeletal myosin (MYH7) mutation in a Chinese patient, 10.1016/j.nmd.2007.06.260
  6. Clarke Nigel F., Kidson Warren, Quijano-Roy Susana, Estournet Brigitte, Ferreiro Ana, Guicheney Pascale, Manson James I., Kornberg Andrew J., Shield Lloyd K., North Kathryn N., SEPN1: Associated with congenital fiber-type disproportion and insulin resistance, 10.1002/ana.20761
  7. Clarke Nigel F., Kolski Hanna, Dye Danielle E., Lim Esther, Smith Robert L. L., Patel Rakesh, Fahey Michael C., Bellance Rémi, Romero Norma B., Johnson Edward S., Labarre-Vila Annick, Monnier Nicole, Laing Nigel G., North Kathryn N., Mutations inTPM3are a common cause of congenital fiber type disproportion, 10.1002/ana.21308
  8. Clarke Nigel F., Amburgey Kimberly, Teener James, Camelo-Piragua Sandra, Kesari Akanchha, Punetha Jaya, Waddell Leigh B., Davis Mark, Laing Nigel G., Monnier Nicole, North Kathryn N., Hoffman Eric P., Dowling James J., A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, 10.1016/j.nmd.2013.02.009
  9. Cullup T., Lamont P.J., Cirak S., Damian M.S., Wallefeld W., Gooding R., Tan S.V., Sheehan J., Muntoni F., Abbs S., Sewry C.A., Dubowitz V., Laing N.G., Jungbluth H., Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement, 10.1016/j.nmd.2012.06.007
  10. Darin N., Tajsharghi H., Ostman-Smith I., Gilljam T., Oldfors A., NEW SKELETAL MYOPATHY AND CARDIOMYOPATHY ASSOCIATED WITH A MISSENSE MUTATION IN MYH7, 10.1212/01.wnl.0000264430.55233.72
  11. Dubourg Odile, Maisonobe Thierry, Behin Anthony, Suominen Tiina, Raheem Olayinka, Penttilä Sini, Parton Matt, Eymard Bruno, Dahl Arve, Udd Bjarne, A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient, 10.1007/s00415-011-5900-9
  12. Dye Danielle E., Azzarelli Biagio, Goebel Hans H., Laing Nigel G., Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred, 10.1016/j.nmd.2006.03.011
  13. Fananapazir L., Dalakas M. C., Cyran F., Cohn G., Epstein N. D., Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy., 10.1073/pnas.90.9.3993
  14. Guergueltcheva V., Peeters K., Baets J., Ceuterick-de Groote C., Martin J. J., Suls A., De Vriendt E., Mihaylova V., Chamova T., Almeida-Souza L., Ydens E., Tzekov C., Hadjidekov G., Gospodinova M., Storm K., Reyniers E., Bichev S., van der Ven P. F. M., Furst D. O., Mitev V., Lochmuller H., Timmerman V., Tournev I., De Jonghe P., Jordanova A., Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency, 10.1212/wnl.0b013e31823dc51e
  15. Hedera Peter, Petty Elizabeth M., Bui Melanie R., Blaivas Mila, Fink John K., The Second Kindred With Autosomal Dominant Distal Myopathy Linked to Chromosome 14q : Genetic and Clinical Analysis, 10.1001/archneur.60.9.1321
  16. Homayoun Houman, Khavandgar Simin, Hoover Jacqueline M., Mohsen Al-Walid, Vockley Jerry, Lacomis David, Clemens Paula R., Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy, 10.1016/j.nmd.2010.12.005
  17. Jandreski Mark A., Sole Michael J., Liew Choong-Chin, Two different forms of beta myosin heavy chain are expressed in human striated muscle, 10.1007/bf00272378
  18. Kärkkäinen Satu, Heliö Tiina, Jääskeläinen Pertti, Miettinen Raija, Tuomainen Petri, Ylitalo Kari, Kaartinen Maija, Reissell Eeva, Toivonen Lauri, Nieminen Markku S., Kuusisto Johanna, Laakso Markku, Peuhkurinen Keijo, Two novel mutations in the β-myosin heavy chain gene associated with dilated cardiomyopathy, 10.1016/j.ejheart.2004.04.017
  19. Laing, Am J Hum Genet, 56, 422 (1995)
  20. Laing Nigel G., Clarke Nigel F., Dye Danielle E., Liyanage Khema, Walker Kendall R., Kobayashi Yasuaki, Shimakawa Shuichi, Hagiwara Tohru, Ouvrier Robert, Sparrow John C., Nishino Ichizo, North Kathryn N., Nonaka Ikuya, Actin mutations are one cause of congenital fibre type disproportion, 10.1002/ana.20260
  21. Lamont P J, Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy, 10.1136/jnnp.2005.073825
  22. Landrum Melissa J., Lee Jennifer M., Riley George R., Jang Wonhee, Rubinstein Wendy S., Church Deanna M., Maglott Donna R., ClinVar: public archive of relationships among sequence variation and human phenotype, 10.1093/nar/gkt1113
  23. McLachlan Andrew D., Karn Jonathan, Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle, 10.1038/299226a0
  24. Meredith Christopher, Herrmann Ralf, Parry Cheryl, Liyanage Khema, Dye Danielle E., Durling Hayley J., Duff Rachael M., Beckman Kaye, de Visser Marianne, van der Graaff Maaike M., Hedera Peter, Fink John K., Petty Elizabeth M., Lamont Phillipa, Fabian Vicki, Bridges Leslie, Voit Thomas, Mastaglia Frank L., Laing Nigel G., Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1), 10.1086/424760
  25. Muelas N., Hackman P., Luque H., Garces-Sanchez M., Azorin I., Suominen T., Sevilla T., Mayordomo F., Gomez L., Marti P., Maria Millan J., Udd B., Vilchez J. J., MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy, 10.1212/wnl.0b013e3181eee4d5
  26. Murgiano Leonardo, Tammen Imke, Harlizius Barbara, Drögemüller Cord, A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs, 10.1186/1471-2156-13-99
  27. Obermann, Mol Cell, 9, 829 (1998)
  28. Ortolano Saida, Tarrío Rosa, Blanco-Arias Patricia, Teijeira Susana, Rodríguez-Trelles Francisco, García-Murias María, Delague Valerie, Lévy Nicolas, Fernández José M., Quintáns Beatriz, Millán Beatriz San, Carracedo Ángel, Navarro Carmen, Sobrido María-Jesús, A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy, 10.1016/j.nmd.2010.12.011
  29. O'Neil K., DeGrado W., A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids, 10.1126/science.2237415
  30. Overeem S., Schelhaas H.J., Blijham P.J., Grootscholten M.I., ter Laak H.J., Timmermans J., van den Wijngaard A., Zwarts M.J., Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation, 10.1016/j.nmd.2007.02.007
  31. Park Jin-Mo, Kim Ye Jin, Yoo Jeong Hyun, Hong Young Bin, Park Ji Hoon, Koo Heasoo, Chung Ki Wha, Choi Byung-Ok, A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement, 10.1016/j.nmd.2013.04.003
  32. Piela Lucjan, Némethy George, Scheraga Harold A., Proline-induced constraints in α-helices : PROLINE-INDUCED CONSTRAINTS, 10.1002/bip.360260910
  33. Raheem Olayinka, Huovinen Sanna, Suominen Tiina, Haapasalo Hannu, Udd Bjarne, Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers, 10.1007/s00401-010-0643-8
  34. Schoenauer Roman, Lange Stephan, Hirschy Alain, Ehler Elisabeth, Perriard Jean-Claude, Agarkova Irina, Myomesin 3, a Novel Structural Component of the M-band in Striated Muscle, 10.1016/j.jmb.2007.11.048
  35. Smith Thomasin A., Steinert Peter M., Parry David A.D., Modeling effects of mutations in coiled-coil structures: Case study using epidermolysis bullosa simplex mutations in segment 1a of k5/k14 intermediate filaments, 10.1002/prot.20089
  36. Sobrido M. J., Fernández J. M., Fontoira E., Pérez-Sousa C., Cabello A., Castro M., Teijeira S., Álvarez S., Mederer S., Rivas E., Seijo-Martínez M., Navarro C., Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family, 10.1093/brain/awh511
  37. Stalpers Xenia, Verrips Aad, Braakhekke Jan, Lammens Martin, van den Wijngaard Arthur, Mostert Adriaan, Scoliosis surgery in a patient with “de novo” myosin storage myopathy, 10.1016/j.nmd.2011.05.005
  38. Tajsharghi Homa, Thornell Lars-Eric, Lindberg Christopher, Lindvall Bj�rn, Henriksson Karl-G�sta, Oldfors Anders, Myosin storage myopathy associated with a heterozygous missense mutation inMYH7, 10.1002/ana.10693
  39. Tajsharghi H., Oldfors A., Swash M., Myosin storage myopathy with cardiomyopathy, 10.1016/j.nmd.2007.04.011
  40. Tasca Giorgio, Ricci Enzo, Penttilä Sini, Monforte Mauro, Giglio Vincenzo, Ottaviani Pierfrancesco, Camastra Giovanni, Silvestri Gabriella, Udd Bjarne, New phenotype and pathology features in MYH7-related distal myopathy, 10.1016/j.nmd.2012.03.003
  41. Udd B., 165th ENMC International Workshop: Distal myopathies 6–8th February 2009 Naarden, The Netherlands, 10.1016/j.nmd.2009.04.002
  42. Udd Bjarne, Distal Myopathies, Neuromuscular Disorders ISBN:9781119973331 p.91-95, 10.1002/9781119973331.ch12
  43. Uro-Coste Emmanuelle, Arné-Bes Marie-Christine, Pellissier Jean-François, Richard Pascale, Levade Thierry, Heitz François, Figarella-Branger Dominique, Delisle Marie-Bernadette, Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation, 10.1016/j.nmd.2008.11.012
  44. Viguera E., Replication slippage involves DNA polymerase pausing and dissociation, 10.1093/emboj/20.10.2587
  45. Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder J.M, Cavallotti D, Vaccario M.L, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R, Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus, 10.1016/s0960-8966(00)00158-9
  46. Wallgren-Pettersson C., Lehtokari V.-L., Kalimo H., Paetau A., Nuutinen E., Hackman P., Sewry C., Pelin K., Udd B., Distal myopathy caused by homozygous missense mutations in the nebulin gene, 10.1093/brain/awm094
  47. Walsh R., Rutland C., Thomas R., Loughna S., Cardiomyopathy: A Systematic Review of Disease-Causing Mutations in Myosin Heavy Chain 7 and Their Phenotypic Manifestations, 10.1159/000252808
  48. Weber James L., Informativeness of human (dC-dA)n · (dG-dT)n polymorphisms, 10.1016/0888-7543(90)90195-z
  49. Wildeman Martin, van Ophuizen Ernest, den Dunnen Johan T., Taschner Peter E.M., Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker, 10.1002/humu.20654