Literature DB >> 9246005

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.

V M Pratt, C E Jackson, D C Wallace, D S Gurley, A Feit, G L Feldman.   

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Year:  1997        PMID： 9246005      PMCID： PMC1715865          DOI： 10.1016/S0002-9297(07)64296-7

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  The Réunion paradox and the digenic model.

Authors:  J S Beckmann
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

2.  Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.

Authors:  C E Jackson; D A Strehler
Journal:  Pediatrics       Date:  1968-02       Impact factor: 7.124

3.  Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

Authors:  V Allamand; O Broux; I Richard; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; A Pereira de Souza
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

4.  Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

Authors:  J Zlotogora; V Gieselmann; G Bach
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

5.  mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.

Authors:  A Torroni; M T Lott; M F Cabell; Y S Chen; L Lavergne; D C Wallace
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

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

Authors:  J S Beckmann; I Richard; D Hillaire; O Broux; C Antignac; E Bois; H Cann; R W Cottingham; N Feingold; J Feingold
Journal:  C R Acad Sci III       Date:  1991

7.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Authors:  I Richard; O Broux; V Allamand; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; C Roudaut
Journal:  Cell       Date:  1995-04-07       Impact factor: 41.582
  7 in total

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