Literature DB >> 1303286

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

K Ben Othmane1, M Ben Hamida, M A Pericak-Vance, C Ben Hamida, S Blel, S C Carter, A M Bowcock, K Petruhkin, T C Gilliam, A D Roses.   

Abstract

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

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Year:  1992        PMID: 1303286     DOI: 10.1038/ng1292-315

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  32 in total

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Authors:  Louis M Kunkel
Journal:  Am J Hum Genet       Date:  2005-02       Impact factor: 11.025

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3.  Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

Authors:  E M McNally; M R Passos-Bueno; C G Bönnemann; M Vainzof; E de Sá Moreira; H G Lidov; K B Othmane; P H Denton; J M Vance; M Zatz; L M Kunkel
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

4.  Association studies in consanguineous populations.

Authors:  E Génin; F Clerget-Darpoux
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

5.  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

6.  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

7.  Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

Authors:  M A Pericak-Vance; K J Nunes; E Whisenant; D B Loeb; K W Small; J M Stajich; J B Rimmler; L H Yamaoka; D I Smith; H A Drabkin
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8.  Linkage of a gene for macular corneal dystrophy to chromosome 16.

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Review 9.  [Limb girdle muscular dystrophies].

Authors:  J Finsterer
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10.  Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes.

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