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. 1997 Sep;34(9):705–713. doi: 10.1136/jmg.34.9.705

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

K N North 1, N G Laing 1, C Wallgren-Pettersson 1
PMCID: PMC1051052  PMID: 9321754

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AFIFI A. K., SMITH J. W., ZELLWEGER H. CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. Neurology. 1965 Apr;15:371–381. doi: 10.1212/wnl.15.4.371. [DOI] [PubMed] [Google Scholar]
  2. Airenne A. L., Wallgren-Pettersson C. Normal cardiac contractility in patients with congenital nemaline myopathy. Neuropediatrics. 1988 Aug;19(3):115–117. doi: 10.1055/s-2008-1052413. [DOI] [PubMed] [Google Scholar]
  3. Arts W. F., Bethlem J., Dingemans K. P., Eriksson A. W. Investigations on the inheritance of nemaline myopathy. Arch Neurol. 1978 Feb;35(2):72–77. doi: 10.1001/archneur.1978.00500260010002. [DOI] [PubMed] [Google Scholar]
  4. Arts W. F., de Groot C. J. Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course. J Neurol. 1983;230(2):123–130. doi: 10.1007/BF00313639. [DOI] [PubMed] [Google Scholar]
  5. Asai T., Fujise K., Uchida M. Anaesthesia for cardiac surgery in children with nemaline myopathy. Anaesthesia. 1992 May;47(5):405–408. doi: 10.1111/j.1365-2044.1992.tb02222.x. [DOI] [PubMed] [Google Scholar]
  6. Banwell B. L., Singh N. C., Ramsay D. A. Prolonged survival in neonatal nemaline rod myopathy. Pediatr Neurol. 1994 Jun;10(4):335–337. doi: 10.1016/0887-8994(94)90134-1. [DOI] [PubMed] [Google Scholar]
  7. Barohn R. J., Jackson C. E., Kagan-Hallet K. S. Neonatal nemaline myopathy with abundant intranuclear rods. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):513–520. doi: 10.1016/0960-8966(94)90092-2. [DOI] [PubMed] [Google Scholar]
  8. Bender A. N., Willner J. P. Nemaline (rod) myopathy: the need for histochemical evaluation of affected families. Ann Neurol. 1978 Jul;4(1):37–42. doi: 10.1002/ana.410040107. [DOI] [PubMed] [Google Scholar]
  9. Bergmann M., Kamarampaka M., Kuchelmeister K., Klein H., Koch H. Nemaline myopathy: two autopsy reports. Childs Nerv Syst. 1995 Oct;11(10):610–615. doi: 10.1007/BF00301002. [DOI] [PubMed] [Google Scholar]
  10. Bertorini T. E., Stalberg E., Yuson C. P., Engel W. K. Single-fiber electromyography in neuromuscular disorders: correlation of muscle histochemistry, single-fiber electromyography, and clinical findings. Muscle Nerve. 1994 Mar;17(3):345–353. doi: 10.1002/mus.880170314. [DOI] [PubMed] [Google Scholar]
  11. Bethlem J., Arts W. F., Dingemans K. P. Common origin of rods, cores, miniature cores, and focal loss of cross-striations. Arch Neurol. 1978 Sep;35(9):555–566. doi: 10.1001/archneur.1978.00500330003002. [DOI] [PubMed] [Google Scholar]
  12. Bucher H. U., Boltshauser E., Briner J. Neonatal nemaline myopathy presenting with multiple joint contractures. Eur J Pediatr. 1985 Sep;144(3):288–290. doi: 10.1007/BF00451965. [DOI] [PubMed] [Google Scholar]
  13. CONEN P. E., MURPHY E. G., DONOHUE W. L. LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS. Can Med Assoc J. 1963 Nov 9;89:983–986. [PMC free article] [PubMed] [Google Scholar]
  14. Cartwright J. D., Castle D. J., Duffield M. G., Reef I. Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type. Postgrad Med J. 1990 Nov;66(781):962–964. doi: 10.1136/pgmj.66.781.962. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Coërs C., Telerman-Toppet N., Gérard J. M., Szliwowski H., Bethlem J., van Wijngaarden G. K. Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies. Neurology. 1976 Nov;26(11):1046–1053. doi: 10.1212/wnl.26.11.1046. [DOI] [PubMed] [Google Scholar]
  16. Cunliffe M., Burrows F. A. Anaesthetic implications of nemaline rod myopathy. Can Anaesth Soc J. 1985 Sep;32(5):543–547. doi: 10.1007/BF03010806. [DOI] [PubMed] [Google Scholar]
  17. Dahl D. S., Klutzow F. W. Congenital rod disease. Further evidence of innervational abnormalities as the basis for the clinicopathologic features. J Neurol Sci. 1974 Nov;23(3):371–385. doi: 10.1016/0022-510x(74)90155-5. [DOI] [PubMed] [Google Scholar]
  18. Delgado M. R. Guillain-Barré syndrome: a pediatric challenge. J Child Neurol. 1996 Jan;11(1):1–3. doi: 10.1177/088307389601100101. [DOI] [PubMed] [Google Scholar]
  19. Dietzen C. J., D'Auria R., Fesenmeier J., Oh S. J. Electromyography in benign congenital myopathies. Muscle Nerve. 1993 Mar;16(3):328–328. [PubMed] [Google Scholar]
  20. Dodson R. F., Crisp G. O., Jr, Nicotra B., Muñoz L., Albright C. D. Rod myopathy with extensive systemic and respiratory muscular involvement. Ultrastruct Pathol. 1983 Sep-Oct;5(2-3):129–133. doi: 10.3109/01913128309141832. [DOI] [PubMed] [Google Scholar]
  21. ENGEL W. K., CUNNINGHAM G. G. RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS. Neurology. 1963 Nov;13:919–923. doi: 10.1212/wnl.13.11.919. [DOI] [PubMed] [Google Scholar]
  22. Eisler T., Wilson J. H. Muscle fiber-type disproportion. Report of a family with symptomatic and asymptomatic members. Arch Neurol. 1978 Dec;35(12):823–826. doi: 10.1001/archneur.1978.00500360047009. [DOI] [PubMed] [Google Scholar]
  23. Engel A. G., Gomez M. R. Nemaline (Z disk) myopathy: observations on the origin, structure, and solubility properties of the nemaline structures. J Neuropathol Exp Neurol. 1967 Oct;26(4):601–619. doi: 10.1097/00005072-196710000-00007. [DOI] [PubMed] [Google Scholar]
  24. Engel A. G. Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin Proc. 1966 Nov;41(11):713–741. [PubMed] [Google Scholar]
  25. Engel W. K., Oberc M. A. Abundant nuclear rods in adult-onset rod disease. J Neuropathol Exp Neurol. 1975 Mar;34(2):119–132. doi: 10.1097/00005072-197503000-00001. [DOI] [PubMed] [Google Scholar]
  26. Eymard B., Brouet J. C., Collin H., Chevallay M., Bussel A., Fardeau M. Late-onset rod myopathy associated with monoclonal gammopathy. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):557–560. doi: 10.1016/0960-8966(93)90115-z. [DOI] [PubMed] [Google Scholar]
  27. Eyre H., Akkari P. A., Wilton S. D., Callen D. C., Baker E., Laing N. G. Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization. Cytogenet Cell Genet. 1995;69(1-2):15–17. doi: 10.1159/000133928. [DOI] [PubMed] [Google Scholar]
  28. Fitzsimons R. B., McLeod J. G. Myopathy with pathological features of both centronuclear myopathy and multicore disease. J Neurol Sci. 1982 Dec;57(2-3):395–405. doi: 10.1016/0022-510x(82)90044-2. [DOI] [PubMed] [Google Scholar]
  29. Goebel H. H., Lenard H. G., Görke W., Kunze K. Fibre type disproportion in the rigid spine syndrome. Neuropadiatrie. 1977 Nov;8(4):467–477. doi: 10.1055/s-0028-1091542. [DOI] [PubMed] [Google Scholar]
  30. Greenwood S. M., Viozzi F. J. Nemaline myopathy. Arch Pathol Lab Med. 1978 Apr;102(4):196–200. [PubMed] [Google Scholar]
  31. Hausmanowa-Petrusewicz I., Fidziańska A., Badurska B. Unusual course of nemaline myopathy. Neuromuscul Disord. 1992;2(5-6):413–418. doi: 10.1016/s0960-8966(06)80013-1. [DOI] [PubMed] [Google Scholar]
  32. Heckmatt J. Z., Leeman S., Dubowitz V. Ultrasound imaging in the diagnosis of muscle disease. J Pediatr. 1982 Nov;101(5):656–660. doi: 10.1016/s0022-3476(82)80286-2. [DOI] [PubMed] [Google Scholar]
  33. Heckmatt J. Z., Loh L., Dubowitz V. Night-time nasal ventilation in neuromuscular disease. Lancet. 1990 Mar 10;335(8689):579–582. doi: 10.1016/0140-6736(90)90357-b. [DOI] [PubMed] [Google Scholar]
  34. Hopkins I. J., Lindsey J. R., Ford F. R. Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. Brain. 1966 Jun;89(2):299–310. doi: 10.1093/brain/89.2.299. [DOI] [PubMed] [Google Scholar]
  35. Howard R. S., Wiles C. M., Hirsch N. P., Spencer G. T. Respiratory involvement in primary muscle disorders: assessment and management. Q J Med. 1993 Mar;86(3):175–189. [PubMed] [Google Scholar]
  36. Hunt C. C., Eyre H. J., Akkari P. A., Meredith C., Dorosz S. M., Wilton S. D., Callen D. F., Laing N. G., Baker E. Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation. Cytogenet Cell Genet. 1995;71(1):94–95. doi: 10.1159/000134070. [DOI] [PubMed] [Google Scholar]
  37. Ishibashi-Ueda H., Imakita M., Yutani C., Takahashi S., Yazawa K., Kamiya T., Nonaka I. Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. Hum Pathol. 1990 Jan;21(1):77–82. doi: 10.1016/0046-8177(90)90078-j. [DOI] [PubMed] [Google Scholar]
  38. Jennekens F. G., Roord J. J., Veldman H., Willemse J., Jockusch B. M. Congenital nemaline myopathy. I. Defective organization of alpha-actinin is restricted to muscle. Muscle Nerve. 1983 Jan;6(1):61–68. doi: 10.1002/mus.880060111. [DOI] [PubMed] [Google Scholar]
  39. Jockusch B. M., Veldman H., Griffiths G. W., van Oost B. A., Jennekens F. G. Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods. Exp Cell Res. 1980 Jun;127(2):409–420. doi: 10.1016/0014-4827(80)90445-0. [DOI] [PubMed] [Google Scholar]
  40. Jones J. G., Factor S. M. Familial congestive cardiomyopathy with nemaline rods in heart and skeletal muscle. Virchows Arch A Pathol Anat Histopathol. 1985;408(2-3):307–312. doi: 10.1007/BF00707993. [DOI] [PubMed] [Google Scholar]
  41. Kamieniecka Z. Late onset myopathy with rod-like particles. Acta Neurol Scand. 1973;49(4):547–551. doi: 10.1111/j.1600-0404.1973.tb01328.x. [DOI] [PubMed] [Google Scholar]
  42. Karpati G., Carpenter S., Andermann F. A new concept of childhood nemaline myopathy. Arch Neurol. 1971 Apr;24(4):291–304. doi: 10.1001/archneur.1971.00480340023002. [DOI] [PubMed] [Google Scholar]
  43. Karpati G., Carpenter S., Eisen A. A. Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study. Arch Neurol. 1972 Sep;27(3):237–251. doi: 10.1001/archneur.1972.00490150045008. [DOI] [PubMed] [Google Scholar]
  44. Kondo K., Yuasa T. Genetics of congenital nemaline myopathy. Muscle Nerve. 1980 Jul-Aug;3(4):308–315. doi: 10.1002/mus.880030407. [DOI] [PubMed] [Google Scholar]
  45. Kornfeld M. Mixed nemaline-mitochondrial "myopathy". Acta Neuropathol. 1980;51(3):185–189. doi: 10.1007/BF00687385. [DOI] [PubMed] [Google Scholar]
  46. Laing N. G., Majda B. T., Akkari P. A., Layton M. G., Mulley J. C., Phillips H., Haan E. A., White S. J., Beggs A. H., Kunkel L. M. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar;50(3):576–583. [PMC free article] [PubMed] [Google Scholar]
  47. Laing N. G., Wilton S. D., Akkari P. A., Dorosz S., Boundy K., Kneebone C., Blumbergs P., White S., Watkins H., Love D. R. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan;9(1):75–79. doi: 10.1038/ng0195-75. [DOI] [PubMed] [Google Scholar]
  48. Lee Y. S., Yip W. C. A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores. J Neurol Sci. 1981 May;50(2):277–290. doi: 10.1016/0022-510x(81)90173-8. [DOI] [PubMed] [Google Scholar]
  49. Martinez B. A., Lake B. D. Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol. 1987 Dec;29(6):815–820. doi: 10.1111/j.1469-8749.1987.tb08832.x. [DOI] [PubMed] [Google Scholar]
  50. Maruyama T., Hanyu N., Maruyama K., Takeda S., Yanagisawa N., Nonaka I. [Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. Rinsho Shinkeigaku. 1990 Jul;30(7):738–744. [PubMed] [Google Scholar]
  51. Matsuo T., Tashiro T., Ikeda T., Tsujihata M., Shimomura C. Fatal neonatal nemaline myopathy. Acta Pathol Jpn. 1982 Sep;32(5):907–916. doi: 10.1111/j.1440-1827.1982.tb03205.x. [DOI] [PubMed] [Google Scholar]
  52. McComb R. D., Markesbery W. R., O'Connor W. N. Fatal neonatal nemaline myopathy with multiple congenital anomalies. J Pediatr. 1979 Jan;94(1):47–51. doi: 10.1016/s0022-3476(79)80348-0. [DOI] [PubMed] [Google Scholar]
  53. McMenamin J. B., Curry B., Taylor G. P., Becker L. E., Murphy E. G. Fatal nemaline myopathy in infancy. Can J Neurol Sci. 1984 May;11(2):305–309. doi: 10.1017/s0317167100045583. [DOI] [PubMed] [Google Scholar]
  54. Meier C., Voellmy W., Gertsch M., Zimmermann A., Geissbühler J. Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. Arch Neurol. 1984 Apr;41(4):443–445. doi: 10.1001/archneur.1984.04050160109025. [DOI] [PubMed] [Google Scholar]
  55. Miike T., Ohtani Y., Tamari H., Ishitsu T., Une Y. Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion. Brain Dev. 1986;8(5):526–532. doi: 10.1016/s0387-7604(86)80098-5. [DOI] [PubMed] [Google Scholar]
  56. Miura H., Kannari K., Kashiwamura H., Nonaka I. [A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. Rinsho Shinkeigaku. 1994 Oct;34(10):1061–1063. [PubMed] [Google Scholar]
  57. Neustein H. B. Nemaline myopathy. A family study with three autopsied cases. Arch Pathol. 1973 Sep;96(3):192–195. [PubMed] [Google Scholar]
  58. Nienhuis A. W., Coleman R. F., Brown W. J., Munsat T. L., Pearson C. M. Nemaline myopathy. A histopathologic and histochemical study. Am J Clin Pathol. 1967 Jul;48(1):1–13. doi: 10.1093/ajcp/48.1.1. [DOI] [PubMed] [Google Scholar]
  59. Otsuji Y., Osame M., Tei C., Minagoe S., Kisanuki A., Arikawa K., Saito K., Nomoto K., Kashima T., Tanaka H. Cardiac involvement in congenital myopathy. Int J Cardiol. 1985 Nov;9(3):311–322. doi: 10.1016/0167-5273(85)90029-4. [DOI] [PubMed] [Google Scholar]
  60. Palmucci L., Doriguzzi C., Mongini T., Chiadò-Piat L. Adult onset nemaline myopathy: a distinct nosologic entity? Clin Neuropathol. 1993 May-Jun;12(3):153–155. [PubMed] [Google Scholar]
  61. Paulus W., Peiffer J., Becker I., Roggendorf W., Schumm F. Adult-onset rod disease with abundant intranuclear rods. J Neurol. 1988 Jul;235(6):343–347. doi: 10.1007/BF00314229. [DOI] [PubMed] [Google Scholar]
  62. Pérez-Briceño R., López-Habib G., Lisker R., Velázquez-Forero F. Miopatía nemalínica. Informe de una familia sugestiva de herencia recesiva. Rev Invest Clin. 1974 Oct-Dec;26(4):373–382. [PubMed] [Google Scholar]
  63. Rifai Z., Kazee A. M., Kamp C., Griggs R. C. Intranuclear rods in severe congenital nemaline myopathy. Neurology. 1993 Nov;43(11):2372–2377. doi: 10.1212/wnl.43.11.2372. [DOI] [PubMed] [Google Scholar]
  64. Robertson W. C., Jr, Kawamura Y., Dyck P. J. Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease. Neurology. 1978 Oct;28(10):1057–1061. doi: 10.1212/wnl.28.10.1057. [DOI] [PubMed] [Google Scholar]
  65. Roig M., Hernández M. A., Salcedo S. Survival from symptomatic nemaline myopathy in the newborn period. Pediatr Neurosci. 1987;13(2):95–97. doi: 10.1159/000120310. [DOI] [PubMed] [Google Scholar]
  66. Rosenson R. S., Mudge G. H., Jr, Sutton M. G. Nemaline cardiomyopathy. Am J Cardiol. 1986 Jul 1;58(1):175–177. doi: 10.1016/0002-9149(86)90268-7. [DOI] [PubMed] [Google Scholar]
  67. SHY G. M., ENGEL W. K., SOMERS J. E., WANKO T. NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY. Brain. 1963 Dec;86:793–810. doi: 10.1093/brain/86.4.793. [DOI] [PubMed] [Google Scholar]
  68. SPIRO A. J., KENNEDY C. HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY. Arch Neurol. 1965 Aug;13:155–159. doi: 10.1001/archneur.1965.00470020045006. [DOI] [PubMed] [Google Scholar]
  69. Sasaki M., Yoneyama H., Nonaka I. Respiratory muscle involvement in nemaline myopathy. Pediatr Neurol. 1990 Nov-Dec;6(6):425–427. doi: 10.1016/0887-8994(90)90014-r. [DOI] [PubMed] [Google Scholar]
  70. Savica V., Bellinghieri G., Di Stefano C., Corvaja E., Consolo F., Corsi M., Maccari F., Spagnoli L. G., Villaschi S., Palmieri G. Plasma and muscle carnitine levels in haemodialysis patients with morphological-ultrastructural examination of muscle samples. Nephron. 1983;35(4):232–236. doi: 10.1159/000183087. [DOI] [PubMed] [Google Scholar]
  71. Seitz R. J., Toyka K. V., Wechsler W. Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis. J Neurol. 1984;231(3):103–108. doi: 10.1007/BF00313674. [DOI] [PubMed] [Google Scholar]
  72. Shafiq S. A., Gorycki M. A., Asiedu S. A., Milhorat A. T. Tenotomy. Effect on the fine structure of the soleus of the rat. Arch Neurol. 1969 Jun;20(6):625–633. doi: 10.1001/archneur.1969.00480120071006. [DOI] [PubMed] [Google Scholar]
  73. Shahar E., Tervo R. C., Murphy E. G. Heterogeneity of nemaline myopathy. A follow-up study of 13 cases. Pediatr Neurosci. 1988;14(5):236–240. [PubMed] [Google Scholar]
  74. Shimomura C., Nonaka I. Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatr Neurol. 1989 Jan-Feb;5(1):25–31. doi: 10.1016/0887-8994(89)90005-2. [DOI] [PubMed] [Google Scholar]
  75. Simpson D. M., Bender A. N. Human immunodeficiency virus-associated myopathy: analysis of 11 patients. Ann Neurol. 1988 Jul;24(1):79–84. doi: 10.1002/ana.410240114. [DOI] [PubMed] [Google Scholar]
  76. Southall D. P., Stebbens V., Abraham N., Abraham L. Prolonged apnoea with severe arterial hypoxaemia resulting from complex partial seizures. Dev Med Child Neurol. 1987 Dec;29(6):784–789. doi: 10.1111/j.1469-8749.1987.tb08824.x. [DOI] [PubMed] [Google Scholar]
  77. Stackhouse R., Chelmow D., Dattel B. J. Anesthetic complications in a pregnant patient with nemaline myopathy. Anesth Analg. 1994 Dec;79(6):1195–1197. doi: 10.1213/00000539-199412000-00028. [DOI] [PubMed] [Google Scholar]
  78. Stoessl A. J., Hahn A. F., Malott D., Jones D. T., Silver M. D. Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings. Arch Neurol. 1985 Nov;42(11):1084–1086. doi: 10.1001/archneur.1985.04060100070025. [DOI] [PubMed] [Google Scholar]
  79. Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H. P., Seidman J. G., Seidman C. E. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701–712. doi: 10.1016/0092-8674(94)90054-x. [DOI] [PubMed] [Google Scholar]
  80. Topaloglu H., Gögüs S., Yalaz K., Kücükali T., Serdaroglu A. Two siblings with nemaline myopathy presenting with rigid spine syndrome. Neuromuscul Disord. 1994 May;4(3):263–267. doi: 10.1016/0960-8966(94)90028-0. [DOI] [PubMed] [Google Scholar]
  81. Van Antwerpen C. L., Gospe S. M., Jr, Dentinger M. P. Nemaline myopathy associated with hypertrophic cardiomyopathy. Pediatr Neurol. 1988 Sep-Oct;4(5):306–308. doi: 10.1016/0887-8994(88)90071-9. [DOI] [PubMed] [Google Scholar]
  82. Volpe P., Damiani E., Margreth A., Pellegrini G., Scarlato G. Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence. Neurology. 1982 Jan;32(1):37–41. doi: 10.1212/wnl.32.1.37. [DOI] [PubMed] [Google Scholar]
  83. Wallgren-Pettersson C., Avela K., Marchand S., Kolehmainen J., Tahvanainen E., Hansen F. J., Muntoni F., Dubowitz V., De Visser M., Van Langen I. M. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromuscul Disord. 1995 Nov;5(6):441–443. doi: 10.1016/0960-8966(95)00022-f. [DOI] [PubMed] [Google Scholar]
  84. Wallgren-Pettersson C. Congenital nemaline myopathy. A clinical follow-up of twelve patients. J Neurol Sci. 1989 Jan;89(1):1–14. doi: 10.1016/0022-510x(89)90002-6. [DOI] [PubMed] [Google Scholar]
  85. Wallgren-Pettersson C., Jasani B., Newman G. R., Morris G. E., Jones S., Singhrao S., Clarke A., Virtanen I., Holmberg C., Rapola J. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscul Disord. 1995 Mar;5(2):93–104. doi: 10.1016/0960-8966(94)00035-8. [DOI] [PubMed] [Google Scholar]
  86. Wallgren-Pettersson C., Kivisaari L., Jäskeläinen J., Lamminen A., Holmberg C. Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy. Pediatr Neurol. 1990 Jan-Feb;6(1):20–28. doi: 10.1016/0887-8994(90)90074-b. [DOI] [PubMed] [Google Scholar]
  87. Wallgren-Pettersson C., Käriäinen H., Rapola J., Salmi T., Jäskeläinen J., Donner M. Genetics of congenital nemaline myopathy: a study of 10 families. J Med Genet. 1990 Aug;27(8):480–487. doi: 10.1136/jmg.27.8.480. [DOI] [PMC free article] [PubMed] [Google Scholar]
  88. Wallgren-Pettersson C., Rapola J., Donner M. Pathology of congenital nemaline myopathy. A follow-up study. J Neurol Sci. 1988 Feb;83(2-3):243–257. doi: 10.1016/0022-510x(88)90072-x. [DOI] [PubMed] [Google Scholar]
  89. Watkins H., McKenna W. J., Thierfelder L., Suk H. J., Anan R., O'Donoghue A., Spirito P., Matsumori A., Moravec C. S., Seidman J. G. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995 Apr 20;332(16):1058–1064. doi: 10.1056/NEJM199504203321603. [DOI] [PubMed] [Google Scholar]
  90. Wilton S. D., Lim L., Dorosz S. D., Gunn H. C., Eyre H. J., Callen D. F., Laing N. G. Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization. Cytogenet Cell Genet. 1996;72(4):294–296. doi: 10.1159/000134206. [DOI] [PubMed] [Google Scholar]
  91. Yamaguchi M., Robson R. M., Stromer M. H., Dahl D. S., Oda T. Actin filaments form the backbone of nemaline myopathy rods. Nature. 1978 Jan 19;271(5642):265–267. doi: 10.1038/271265a0. [DOI] [PubMed] [Google Scholar]
  92. Yamaguchi M., Robson R. M., Stromer M. H., Dahl D. S., Oda T. Nemaline myopathy rod bodies. Structure and composition. J Neurol Sci. 1982 Oct;56(1):35–56. doi: 10.1016/0022-510x(82)90059-4. [DOI] [PubMed] [Google Scholar]

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