Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 Aug;27(8):480–487. doi: 10.1136/jmg.27.8.480

Genetics of congenital nemaline myopathy: a study of 10 families.

C Wallgren-Pettersson 1, H Kääriäinen 1, J Rapola 1, T Salmi 1, J Jääskeläinen 1, M Donner 1
PMCID: PMC1017195  PMID: 2213842

Abstract

In order to investigate the inheritance in congenital nemaline myopathy (CNM), we studied the family histories and pedigrees of 13 patients with CNM from 10 families, and the 20 patients, by physical examination, single fibre electromyography, ultrasonography of muscles, measurement of serum creatine kinase, muscle biopsy, and electrophoresis of muscle proteins. None of the parents was affected. In three families there were two affected children. Of the parents, 15 showed deficiency of type 2B muscle fibres, and all except one father showed some other minor neuromuscular abnormality. These may represent heterozygous manifestations of recessive gene. Most of the ancestors came from sparsely populated rural communities in the west of Finland. We conclude that in the Finnish CNM patients, the mode of inheritance appears to be recessive. Apart from a few instances of dominant inheritance, most cases published also seem compatible with recessive inheritance.

Full text

PDF
480

Images in this article

485Image
on p.485

Selected References

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

  1. 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]
  2. 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]
  3. Blomstrand E., Ekblom B. The needle biopsy technique for fibre type determination in human skeletal muscle--a methodological study. Acta Physiol Scand. 1982 Dec;116(4):437–442. doi: 10.1111/j.1748-1716.1982.tb07163.x. [DOI] [PubMed] [Google Scholar]
  4. Brooke M. H., Engel W. K. The histographic analysis of human muscle biopsies with regard to fiber types. 1. Adult male and female. Neurology. 1969 Mar;19(3):221–233. doi: 10.1212/wnl.19.3.221. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Doriguzzi C., Mongini T., Palmucci L., Gagnor E., Schiffer D. Quantitative analysis of quadriceps muscle biopsy. Results in 30 healthy females. J Neurol Sci. 1984 Nov-Dec;66(2-3):319–326. doi: 10.1016/0022-510x(84)90020-0. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Johnson M. A., Sideri G., Weightman D., Appleton D. A comparison of fibre size, fibre type constitution and spatial fibre type distribution in normal human muscle and in muscle from cases of spinal muscular atrophy and from other neuromuscular disorders. J Neurol Sci. 1973 Dec;20(4):345–361. doi: 10.1016/0022-510x(73)90169-x. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. Kuitunen P., Rapola J., Noponen A. L., Donner M. Nemaline myopathy. Report of four cases and review of the literature. Acta Paediatr Scand. 1972 May;61(3):353–361. doi: 10.1111/j.1651-2227.1972.tb16113.x. [DOI] [PubMed] [Google Scholar]
  11. Laemmli U. K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970 Aug 15;227(5259):680–685. doi: 10.1038/227680a0. [DOI] [PubMed] [Google Scholar]
  12. Mahon M., Toman A., Willan P. L., Bagnall K. M. Variability of histochemical and morphometric data from needle biopsy specimens of human quadriceps femoris muscle. J Neurol Sci. 1984 Jan;63(1):85–100. doi: 10.1016/0022-510x(84)90111-4. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. Maunder-Sewry C. A., Dubowitz V. Needle muscle biopsy for carrier detection in Duchenne muscular dystrophy. Part 1. Light microscopy--histology, histochemistry and quantitation. J Neurol Sci. 1981 Feb;49(2):305–324. doi: 10.1016/0022-510x(81)90087-3. [DOI] [PubMed] [Google Scholar]
  15. O'Farrell P. H. High resolution two-dimensional electrophoresis of proteins. J Biol Chem. 1975 May 25;250(10):4007–4021. [PMC free article] [PubMed] [Google Scholar]
  16. 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]
  17. 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]
  18. 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]
  19. Stuhlfauth I., Jennekens F. G., Willemse J., Jockusch B. M. Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle. Muscle Nerve. 1983 Jan;6(1):69–74. doi: 10.1002/mus.880060112. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. 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]
  22. 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]
  23. 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]
  24. Wallgren-Pettersson C., Sainio K., Salmi T. Electromyography in congenital nemaline myopathy. Muscle Nerve. 1989 Jul;12(7):587–593. doi: 10.1002/mus.880120710. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES