Seminars in Pediatric Neurology
Volume 18, Issue 4 , Pages 230-238 , December 2011

Nemaline Myopathies

  • Carina Wallgren-Pettersson, MD

      Affiliations

    • The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    • Corresponding Author InformationAddress reprint requests to Carina Wallgren-Pettersson, MD, The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, PO Box 211, 025 Helsinki, Finland
  • ,
  • Caroline A. Sewry, PhD

      Affiliations

    • Dubowitz Neuromuscular Centre, Institute of Child Health, London, UK
    • Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK
  • ,
  • Kristen J. Nowak, PhD

      Affiliations

    • Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia
  • ,
  • Nigel G. Laing, PhD

      Affiliations

    • Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia

References 

  1. Lake BD , Wilson J . Zebra body myopathy (Clinical, histochemical and ultrastructural studies) . J Neurol Sci . 1975;24:437–446
  2. Shy GM , Engel WK , Somers JE , et al.  Nemaline myopathy (A new congenital myopathy) . Brain . 1963;86:793–810
  3. Sambuughin N , Yau KS , Olivé M , et al.  Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores . Am J Hum Genet . 2010;87:842–847
  4. Wallgren-Pettersson C , Pelin K , Nowak KJ , et al.  Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin . Neuromuscul Disord . 2004;14:461–470
  5. Chahin N , Selcen D , Engel AG . Sporadic late onset nemaline myopathy . Neurology . 2005;65:1158–1164
  6. Benveniste O , Laforet P , et al.  Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy . Neurology . 2008;71:531–532
  7. Voermans NC , Minnema M , Lammens M , et al.  Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant . Neurology . 2008;71:532–534
  8. Novy J , Rosselet A , Spertini O , et al.  Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy . Muscle Nerve . 2010;41:286–287
  9. Laing NG , Wilton SD , Akkari PA , et al.  A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy . Nat Genet . 1995;9:75–79
  10. Pénisson-Besnier I , Monnier N , Toutain A , et al.  A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study . Neuromuscul Disord . 2007;17:330–337
  11. Kiphuth IC , Krause S , Huttner HB , et al.  Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation . J Neurol . 2010;257:658–660
  12. Tan P , Briner J , Boltshauser E , et al.  Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy . Neuromuscul Disord . 1999;9:573–579
  13. Clarke NF , Kolski H , Dye DE , et al.  Mutations in TPM3 are a common cause of congenital fiber type disproportion . Ann Neurol . 2008;63:329–337
  14. Lawlor MW , Dechene ET , Roumm E , et al.  Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion . Hum Mutat . 2010;31:176–183
  15. Munot P , Lashley D , Jungbluth H , et al.  Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia . Neuromuscul Disord . 2010;20:796–800
  16. Lehtokari VL , Pelin K , Donner K , et al.  Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin . Eur J Hum Genet . 2008;16:1055–1061
  17. De Paula AM , Franques J , Fernandez C , et al.  A TPM3 mutation causing cap myopathy . Neuromuscul Disord . 2009;19:685–688
  18. Lehtokari VL , Pelin K , Sandbacka M , et al.  Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy . Hum Mutat . 2006;27:946–956
  19. Wallgren-Pettersson C . Congenital nemaline myopathy (A clinical follow-up of twelve patients) . J Neurol Sci . 1989;89:1–14
  20. Wallgren-Pettersson C , Lehtokari VL , Kalimo H , et al.  Distal myopathy caused by homozygous missense mutations in the nebulin gene . Brain . 2007;130:1465–1476
  21. Lehtokari VL , Pelin K , Herczegfalvi A , et al.  Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy . Neuromuscul Disord . 2011;8:556–562
  22. Romero NB , Lehtokari VL , Quijano-Roy S , et al.  Core-rod myopathy caused by mutations in the nebulin gene . Neurology . 2009;73:1159–1161
  23. Lehtokari VL , Greenleaf RS , Dechene ET , et al.  The exon 55 deletion in the nebulin gene—One single founder mutation with world-wide occurrence . Neuromuscul Disord . 2009;19:179–181
  24. Wallgren-Pettersson C , Kivisaari L , Jääskeläinen J , et al.  Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy . Pediatr Neurol . 1990;6:20–28
  25. Jungbluth H , Sewry CA , Counsell S , et al.  Magnetic resonance imaging of muscle in nemaline myopathy . Neuromuscul Disord . 2004;14:779–784
  26. Laing NG , Dye DE , Wallgren-Pettersson C , et al.  Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1) . Hum Mutat . 2009;30:1267–1277
  27. Nowak KJ , Sewry CA , Navarro C , et al.  Nemaline myopathy caused by absence of alpha-skeletal muscle actin . Ann Neurol . 2007;61:175–184
  28. Sewry CA , Holton J , Dick DJ , et al.  Zebra body myopathy resolved . Neuromuscul Disord . 2009;19:637
  29. Donner K , Ollikainen M , Ridanpää M , et al.  Mutations in the β-tropomyosin (TPM2) gene—A rare cause of nemaline myopathy . Neuromuscul Disord . 2002;12:151–158
  30. Sung SS , Brassington AM , Grannatt K , et al.  Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes . Am J Hum Genet . 2003;72:681–690
  31. Monnier N , Lunardi J , Marty I , et al.  Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy . Neuromuscul Disord . 2009;19:118–123
  32. Lehtokari VL , Ceuterick-de Groote C , de Jonghe P , et al.  Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2 . Neuromuscul Disord . 2007;17:433–442
  33. Tajsharghi H , Ohlsson M , Lindberg C , et al.  Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2) . Arch Neurol . 2007;64:1334–1338
  34. Johnston JJ , Kelley RI , Crawford TO , et al.  A novel nemaline myopathy in the Amish caused by a mutation in troponin . Am J Hum Genet . 2000;67:814–821
  35. Agrawal PB , Greenleaf RS , Tomczak KK , et al.  Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2 . Am J Hum Genet . 2007;80:162–167
  36. Kaimaktchiev V , Goebel H , Laing N , et al.  Intranuclear nemaline rod myopathy . Muscle Nerve . 2006;34:369–372
  37. Dubowitz V , Sewry CA , et al.  Muscle Biopsy: A Practical Approach . 3rd ed.. New York, NY: Saunders Elsevier; 2007;
  38. Jockusch BM , Veldman H , Griffiths GW , et al.  Immunofluorescence microscopy of a myopathy (Alpha-actinin is a major constituent of nemaline rods) . Exp Cell Res . 1980;127:409–420
  39. Luther PK , Squire JM . Muscle Z-band ultrastructure: Titin Z-repeats and Z-band periodicities do not match . J Mol Biol . 2002;319:1157–1164
  40. Ilkovski B , Cooper ST , Nowak K , et al.  Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene . Am J Hum Genet . 2001;68:1333–1343
  41. Yamaguchi M , Robson RM , Stromer MH , et al.  Nemaline myopathy rod bodies (Structure and composition) . J Neurol Sci . 1982;56:35–56
  42. Schröder R , Reimann J , Salmikangas P , et al.  Beyond LGMD1A: Myotilin is a component of central core lesions and nemaline rods . Neuromuscul Disord . 2003;13:451–455
  43. Sharma MC , Jain D , Sarkar C , et al.  Congenital myopathies—A comprehensive update of recent advancements . Acta Neurol Scand . 2009;119:281–292
  44. Gurgel-Giannetti J , Reed U , Bang ML , et al.  Nebulin expression in patients with nemaline myopathy . Neuromuscul Disord . 2001;11:154–162
  45. Vandebrouck A , Domazetovska A , Mokbel N , et al.  In vitro analysis of rod composition and actin dynamics in inherited myopathies . J Neuropathol Exp Neurol . 2010;69:429–441
  46. Ravenscroft G , Wilmshurst JM , Pillay K , et al.  A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance . Neuromuscul Disord . 2011;21:31–36
  47. Vihola A , Bassez G , Meola G , et al.  Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2 . Neurology . 2003;60:1854–1857
  48. Monnier N , Romero NB , Lerale J , et al.  An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor . Hum Mol Genet . 2000;9:2599–2608
  49. Zvaritch E , Kraeva N , Bombardier E , et al.  Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods . Proc Natl Acad Sci U S A . 2009;106:21813–21818
  50. Nowak KJ , Ravenscroft G , Jackaman C , et al.  Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin . J Cell Biol . 2009;185:903–915
  51. Banwell BL , Russel J , Fukudome T , et al.  Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency . J Neuropathol Exp Neurol . 1999;58:832–846
  52. Olivé M , Odgerel Z , Martinez A , et al.  Intranuclear rods in three Spanish families with ZASPopathy . Neuromuscul Disord . 2010;20:623; abstract P2.17
  53. Ottenheijm CA , Hooijman P , DeChene ET , et al.  Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2) . J Struct Biol . 2010;170:334–343
  54. Bell CJ , Dinwiddie DL , Miller NA , et al.  Carrier testing for severe childhood recessive diseases by next-generation sequencing . Sci Transl Med . 2011;3:65ra4
  55. Corbett MA , Robinson CS , Dunglison GF , et al.  A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy . Hum Mol Genet . 2001;10:317–328
  56. Laing NG , Majda BT , Akkari PA , et al.  Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome I . Am J Hum Genet . 1992;50:576–583
  57. Bang ML , Li X , Littlefield R , et al.  Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle . J Cell Biol . 2006;173:905–916
  58. Witt CC , Burkart C , Labeit D , et al.  Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo . EMBO J . 2006;25:3843–3855
  59. Crawford K , Flick R , Close L , et al.  Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period . Mol Cell Biol . 2002;22:5887–5896
  60. Nguyen MA , Hardeman EC . Mouse models for thin filament disease . Adv Exp Med Biol . 2008;642:66–77
  61. Ravenscroft G , Jackaman C , Bringans S , et al.  Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies . Brain . 2011;134(Pt 4):1101–1115
  62. Feng HZ , Wei B , Jin JP . Deletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscle . J Biol Chem . 2009;284:31798–31806
  63. Haigh SE , Salvi SS , Sevdali M , et al.  Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene . Neuromuscul Disord . 2010;20:363–374
  64. Guglieri M , Bushby K . Molecular treatments in Duchenne muscular dystrophy . Curr Opin Pharmacol . 2010;10:331–337
  65. Ryan MM , Sy C , Rudge S , et al.  Dietary L-tyrosine supplementation in nemaline myopathy . J Child Neurol . 2008;23:609–613
  66. Nair-Shalliker V , Kee AJ , Joya JE , et al.  Myofiber adaptational response to exercise in a mouse model of nemaline myopathy . Muscle Nerve . 2004;30:470–480
  67. Joya JE , Kee AJ , Nair-Shalliker V , et al.  Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism . Hum Mol Genet . 2004;13:2633–2645
  68. Kinali M , Arechavala-Gomeza V , Feng L , et al.  Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study . Lancet Neurol . 2009;8:918–928
  69. Odom GL , Banks GB , Schultz BR , et al.  Preclinical studies for gene therapy of Duchenne muscular dystrophy . J Child Neurol . 2010;25:1149–1157
  70. Meregalli M , Farini A , Parolini D , et al.  Stem cell therapies to treat muscular dystrophy: Progress to date . BioDrugs . 2010;24:237–247
  71. Mendell JR , Campbell K , Rodino-Klapac L , et al.  Dystrophin immunity in Duchenne's muscular dystrophy . N Engl J Med . 2010;363:1429–1437 71
  72. Khurana TS , Davies KE . Pharmacological strategies for muscular dystrophy . Nat Rev Drug Discov . 2003;2:379–390
  73. Ilkovski B , Clement S , Sewry C , et al.  Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy . Neuromuscul Disord . 2005;15:829–835

PII: S1071-9091(11)00089-1

doi: 10.1016/j.spen.2011.10.004

Seminars in Pediatric Neurology
Volume 18, Issue 4 , Pages 230-238 , December 2011