Literature DB >> 1598902

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

M C Speer1, 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.   

Abstract

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.

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Year:  1992        PMID: 1598902      PMCID: PMC1682558     

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


  20 in total

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Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

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Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

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Journal:  Arch Phys Med Rehabil       Date:  1966-08       Impact factor: 3.966

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Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438

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Authors:  J M Gilchrist; M Pericak-Vance; L Silverman; A D Roses
Journal:  Neurology       Date:  1988-01       Impact factor: 9.910

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  17 in total

1.  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

2.  Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.

Authors:  C T Falk; J M Gilchrist; M A Pericak-Vance; M C Speer
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

3.  Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.

Authors:  M C Speer; J M Gilchrist; J M Stajich; P C Gaskell; C A Westbrook; S K Horrigan; L Bartoloni; L H Yamaoka; W K Scott; M A Pericak-Vance
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

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

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Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 5.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

6.  Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

Authors:  D N Messina; M C Speer; M A Pericak-Vance; E M McNally
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

7.  Abnormal dystrophin expression in patients with limb girdle syndromes.

Authors:  S Beyenburg; S Zierz; K Arahata; R R Mundegar; W Friedl; F Jerusalem
Journal:  J Neurol       Date:  1994-02       Impact factor: 4.849

Review 8.  [Limb girdle muscular dystrophies].

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

9.  Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Authors:  S G Ryan; M J Dixon; M A Nigro; K A Kelts; O N Markand; J C Terry; R Shiang; J J Wasmuth; P O'Connell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

10.  Myotonic dystrophy and limb girdle muscular dystrophy in one family.

Authors:  R Schröder; S Beyenburg; J Weber; K Olek; S Zierz
Journal:  Clin Investig       Date:  1994-05
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