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Dr. Carina Wallgren-Pettersson MD.,

Consultant in Medical Genetics
Departments of Medical Genetics
University of Helsinki and Folkhälsan
P.O.Box 211
FIN-00251 Helsinki
Finland.

Genes and mutations causing nemaline myopathy
An overview
by Katarina Pelin, PhD
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Finland.
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Congenital nemaline myopathy:
recommendations for the care of patients:
Carina Wallgren-Pettersson, M.D., Ph. D., Consultant in Medical Genetics, Co-convenor of the EMNC International Consortium on Nemaline Myopathy

A full list of papers by Dr. Wallgren-Pettersson's lab up to September 2002.

Publications in scientific journals Wallgren-Pettersson C, Rapola J, Donner M: Pathology of congenital nemaline myopathy - a follow-up study. J Neurol Sci, 83:243-257, 1988.

Airenne A-L, Wallgren-Pettersson C: Normal cardiac contractility in patients with congenital nemaline myopathy. Neuropediatrics 19:115-117, 1988.

Wallgren-Pettersson C: Congenital nemaline myopathy. A clinical follow-up study of twelve patients. J Neurol Sci, 89:1-14, 1989.

Wallgren-Pettersson C, Sainio K, Salmi T: Electromyography in congenital nemaline myopathy. Muscle Nerve, 12:587-593, 1989.

Wallgren-Pettersson C, Kivisaari L, Jääskeläinen J, Lamminen A, Holmberg C: Ultrasonography, CT and MRI of muscles in congenital nemaline myopathy. Pediatr Neurol, 6:20-28, 1990.

Wallgren-Pettersson C, Arjomaa P, Holmberg C: Muscle proteins in congenital nemaline myopathy. Pediatr Neurol, 6:171-174, 1990.

Wallgren-Pettersson C, Kääriäinen H, Rapola J, Salmi T, Jääskeläinen J, Donner M: Genetics of congenital nemaline myopathy - a study of ten families. J Med Genet, 27:480-487, 1990.

Tahvanainen E, Beggs A, Wallgren-Pettersson C: Exclusion of two candidate loci as the gene locus for autosomal recessive nemaline myopathy. J Med Genet, 31:79-80, 1994.

Wallgren-Pettersson C, Jasani B, Newman GR, Morris GE, 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. Neuromusc Disord, 5:93-104, 1995.

Wallgren-Pettersson C, Hiilesmaa V, Paatero H: Pregnancy and delivery in congenital nemaline myopathy. Acta Obstet Gynecol Scand, 74:659-661, 1995.

Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Juul Hansen F, Muntoni F, Dubowitz V, de Visser M, van Langen IM, Laing NG, Fauré S, de la Chapelle A: A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromusc Disord, 5:441-443, 1995.

North KN, Laing NG, Wallgren-Pettersson C and the ENMC International Consortium on Nemaline Myopathy: Nemaline myopathy: current concepts. J Med Genet, 34:705-713, 1997.

Pelin K, Ridanpää M, Donner K, Wilton S, Krishnarajah J, Laing NG, Kolmerer B, Labeit S, de la Chapelle A, Wallgren-Pettersson C: Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. Eur J Hum Genet, 5:229-234, 1997.

Wallgren-Pettersson C: Genetics of the nemaline myopathies and the myotubular myopathies. Neuromusc Disord, 8:401-404, 1998.

Pelin K, Hilpelä P, Sewry C , Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang M-L, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C: Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA, 96:2305-2310, 1999.
http://www.pnas.org/cgi/content/full/96/5/2305

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Anderson JR, North KN, Iannaccone ST, Müller C, Nürnberg P, Muntoni F, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG: Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics, 23:208-212, 1999.

Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A: Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromusc Disord, 9:564-572, 1999.

Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG: Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromusc Disord 573-579, 1999.

Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni, F: Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. Neuromusc Disord, 11:146-153, 2001.

Gurgel-Giannetti J, Reed U, Bang M-L, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M: Nebulin expression in patients with nemaline myopathy. Neuromusc Disord, 11:154-162, 2001.

Jungbluth H, Sewry, CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F: Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle a-actin (ACTA1) gene. Neuromusc Disord, 11:35-40, 2001.

Donner, K., Ollikainen, M., Ridanpää, M., Christen, H-J., Goebel, H.H., de Visser, M., Pelin, K. & Wallgren-Pettersson, C. Mutations in the -tropomyosin (TPM2) gene a rare cause of nemaline myopathy. Neuromusc. Disord., 12:151-158, 2002.


Latest papers:

Pelin, K., Donner, K., Holmberg, M., Jungbluth, H., Muntoni, F. & Wallgren-Pettersson, C. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromusc. Disord., 12:680-686, 2002.

Wallgren-Pettersson, C., Donner, K., Sewry, C., Bijlsma, E., Lammens, M., Bushby, K.M., Giovanucci Uzielli, M.L., Lapi, E., Odent, S., Akcoren, Z., Topaloglu, H. & Pelin K. Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromusc. Disord., 12:674-679, 2002.

Wallgren-Pettersson C: Nemaline and Myotubular Myopathies. Seminars in Pediatric Neurology, 9:132-144, 2002.

Workshop reports
Wallgren-Pettersson C, Laing NG: Workshop report: 40th ENMC international workshop: Nemaline myopathy. 2-4 February 1996, Naarden, The Netherlands. Neuromusc Disord, 6:389-391, 1996.

Wallgren-Pettersson C, Beggs AH, Laing NG: Workshop report: 51st ENMC International Workshop: Nemaline myopathy. 13-15 June 1997, Naarden, The Netherlands. Neuromusc Disord, 8:53-56, 1998.

Wallgren-Pettersson C, Laing NG: Report of the 70th ENMC International Workshop: nemaline myopathy. Neuromusc Disord, 10:299-306, 2000.

Wallgren-Pettersson C, Laing NG: Report of the 83rd ENMC international workshop: 4th workshop on nemaline myopathy, 22-24 September 2000, Naarden, The Netherlands. Neuromusc Disord, 11:589-595, 2001.

Book chapters Wallgren-Pettersson C, Clarke A: The congenital myopathies. In: Emery and Rimoin's Principles and Practice of Medical Genetics, Rimoin DL, Connor JM, Pyeritz RE, Emery AEH (ed.), 3rd ed., Churchill Livingstone, 1996, pp. 2367-2386.

Wallgren-Pettersson C: Nemaline myopathy. In: Diagnostic Criteria for Neuromuscular Diseases, AEH Emery (ed.), 2nd ed., Royal Society of Medicine Press, London, ENMC, Baarn, The Netherlands, 1997, pp. 69-71.

Wallgren-Pettersson C, Laing NG: Nemaline myopathy. In: Neuromuscular Disorders: Clinical and Molecular Genetics, AEH Emery (Ed.). John Wiley & Sons, Chichester, New York, Weinheim, Brisbane, Singapore, Toronto 1998;11:247-262.

Wallgren-Pettersson C: Gene table: The congenital myopathies. European J Paed Neurol, 5:87-88, 2001.

Wallgren-Pettersson C, Clarke A: The congenital/structural myopathies. In: Emery and Rimoin's Principles and Practice of Medical Genetics, Rimoin DL, Connor JM, Pyeritz RE, Emery AEH (ed.), 4th ed., in press.

Pelin, K., Labeit, S. & Wallgren-Pettersson, C. Nebulin, human. In: The Encyclopedia of Molecular Medicin, Vol.5. Ed. T.E. Creighton. Pp. 2223-2225, John Wiley & Sons Inc., Chichester, New York, Weinheim, Brisbane, Singapore, Toronto 5:2223-2225, 2002.

Scientific monographs
Wallgren-Pettersson C: Congenital nemaline myopathy: a longi-tudinal study. Commentationes Physico-Mathematicae III 1990, Dissertationes No. 30, The Finnish Society of Sciences and Letters, Helsinki 1990, dissertation, 102 p.