Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1993 May; 30(5): 385–387.
PMCID: PMC1016373

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.


The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (507K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve. 1983 Sep;6(7):469–480. [PubMed]
  • Zatz M, Passos-Bueno MR, Rapaport D. Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. Am J Med Genet. 1989 Mar;32(3):407–410. [PubMed]
  • Vainzof M, Pavanello RC, Pavanello Filho I, Passos-Bueno MR, Rapaport D, Hsi CT, Zatz M. Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study. J Neurol Sci. 1990 Sep;98(2-3):221–233. [PubMed]
  • Love DR, Hill DF, Dickson G, Spurr NK, Byth BC, Marsden RF, Walsh FS, Edwards YH, Davies KE. An autosomal transcript in skeletal muscle with homology to dystrophin. Nature. 1989 May 4;339(6219):55–58. [PubMed]
  • Passos-Bueno MR, Terwilliger J, Ott J, Vainzof M, Love DR, Davies KE, Zatz M. Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. Am J Med Genet. 1991 Jan;38(1):140–146. [PubMed]
  • Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham RW, Jr, Feingold N, Feingold J, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III. 1991;312(4):141–148. [PubMed]
  • Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991. Cytogenet Cell Genet. 1991;58(3-4):986–2156. [PubMed]
  • Passos-Bueno MR, Vainzof M, Pavanello R de C, Pavanello-Filho I, Lima MA, Zatz M. Limb-girdle syndrome: a genetic study of 22 large Brazilian families. Comparison with X-linked Duchenne and Becker dystrophies. J Neurol Sci. 1991 May;103(1):65–75. [PubMed]
  • Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Jr, Rary JM. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. [PubMed]
  • Fougerousse F, Richard I, Broux O, Cohen D, Beckmann JS. Mapping of two chromosome 15 microsatellites. Genomics. 1992 Jul;13(3):903–904. [PubMed]
  • Litt M, Luty JA. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet. 1989 Mar;44(3):397–401. [PubMed]
  • Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. [PubMed]

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