Literature DB >> 1901754

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.

J S Beckmann1, I Richard, D Hillaire, O Broux, C Antignac, E Bois, H Cann, R W Cottingham, N Feingold, J Feingold.   

Abstract

Limb-girdle muscular dystrophy (LGMD) is inherited as a monogenic, autosomal recessive trait. A genetically homogeneous group of families from the Isle of La Réunion, comprising individuals at high risk for this disorder, was systematically analysed using a panel of 85 polymorphic markers spanning approximately 30% of the human genome. Linkage was detected between the LGMD gene and the marker D15S25, uncovered with the probe pTHH114 and restriction enzyme RsaI (lod score = 5.52 at a 0 = 0.0), localising this gene onto chromosome 15. Such a lod score corresponds to odds of 3.3 x 105 in favor of linkage versus absence of linkage. Additional families from other populations will need to be examined before the role of this newly identified locus can be understood.

Entities:  

Mesh:

Year:  1991        PMID: 1901754

Source DB:  PubMed          Journal:  C R Acad Sci III        ISSN: 0764-4469


  34 in total

1.  Report of ENMC workshop on the limb-girdle muscular dystrophies.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

Review 2.  Recent advances in understanding muscular dystrophy.

Authors:  K M Bushby
Journal:  Arch Dis Child       Date:  1992-10       Impact factor: 3.791

3.  Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.

Authors:  M C Speer; L H Yamaoka; J H Gilchrist; C P Gaskell; J M Stajich; J M Vance; A Kazantsev; A A Lastra; C S Haynes; J S Beckmann
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

4.  Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

Authors:  M C Speer; J M Vance; J M Grubber; F Lennon Graham; J M Stajich; K D Viles; A Rogala; R McMichael; J Chutkow; C Goldsmith; R W Tim; M A Pericak-Vance
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

5.  DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.

Authors:  V M Pratt; C E Jackson; D C Wallace; D S Gurley; A Feit; G L Feldman
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

6.  A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.

Authors:  P Dinçer; Z Akçören; E Demir; I Richard; O Sancak; G Kale; S Ozme; A Karaduman; E Tan; J A Urtizberea; J S Beckmann; H Topaloğlu
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

7.  Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

Authors:  A J van der Kooi; M van Meegen; T M Ledderhof; E M McNally; M de Visser; P A Bolhuis
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

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

Authors:  M R Passos-Bueno; I Richard; M Vainzof; F Fougerousse; J Weissenbach; O Broux; D Cohen; J Akiyama; S K Marie; A A Carvalho
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

Review 9.  [Limb girdle muscular dystrophies].

Authors:  J Finsterer
Journal:  Nervenarzt       Date:  2004-12       Impact factor: 1.214

10.  The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

Authors:  M Vainzof; F de Paula; A M Tsanaclis; M Zatz
Journal:  J Clin Pathol       Date:  2003-08       Impact factor: 3.411

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