Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Jan;31(1):79–80. doi: 10.1136/jmg.31.1.79

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

E Tahvanainen 1, A H Beggs 1, C Wallgren-Pettersson 1
PMCID: PMC1049608  PMID: 8151647

Abstract

The putative gene for autosomal recessive nemaline myopathy has not been mapped, cloned, or otherwise characterised. We used linkage analysis with polymorphic CA repeats to test for the involvement of two candidate loci, APOA2 and ACTN2. Based on the segregation in five families both candidate loci could be excluded.

Full text

PDF
79

Images in this article

79Image
on p.79

Selected References

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

  1. Beggs A. H., Byers T. J., Knoll J. H., Boyce F. M., Bruns G. A., Kunkel L. M. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem. 1992 May 5;267(13):9281–9288. [PubMed] [Google Scholar]
  2. Beggs A. H., Phillips H. A., Kozman H., Mulley J. C., Wilton S. D., Kunkel L. M., Laing N. G. A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics. 1992 Aug;13(4):1314–1315. doi: 10.1016/0888-7543(92)90054-v. [DOI] [PubMed] [Google Scholar]
  3. 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]
  4. 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]
  5. 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]
  6. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. 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]
  9. 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]
  10. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES