Literature DB >> 7881291

Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.

L H Yamaoka1, C A Westbrook, M C Speer, J M Gilchrist, E W Jabs, E G Schweins, J M Stajich, P C Gaskell, A D Roses, M A Pericak-Vance.   

Abstract

Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of disorders. We previously localized an autosomal dominant form of the disorder (LGMD1A) to chromosome 5q22-31 by linkage analysis in a single large pedigree. After developing a microsatellite genetic map incorporating six loci in q31-33 of chromosome 5 and spanning 35 cM, we have refined the original localization. Using multipoint analysis, LGMD1A is localised to a 7 cM region between the markers IL9 and D5S178 with odds > 1000:1.

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Year:  1994        PMID： 7881291     DOI： 10.1016/0960-8966(94)90086-8

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  11 in total

1.  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

2.  Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.

Authors:  Montse Olivé; Zagaa Odgerel; Amaia Martínez; Juan José Poza; Federico García Bragado; Ramón J Zabalza; Ivonne Jericó; Laura Gonzalez-Mera; Alexey Shatunov; Hee Suk Lee; Judith Armstrong; Elías Maraví; Maria Ramos Arroyo; Jordi Pascual-Calvet; Carmen Navarro; Carmen Paradas; Mariano Huerta; Fabian Marquez; Eduardo Gutierrez- Rivas; Adolf Pou; Isidre Ferrer; Lev G Goldfarb
Journal:  Neuromuscul Disord       Date:  2011-06-14       Impact factor: 4.296

Review 3.  Investigation of muscle disease.

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

4.  Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Authors:  H Haravuori; P Mäkelä-Bengs; B Udd; J Partanen; L Pulkkinen; H Somer; L Peltonen
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

5.  Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Authors:  T Weiler; C R Greenberg; E Nylen; W Halliday; K Morgan; D Eggertson; K Wrogemann
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

Review 6.  [Limb girdle muscular dystrophies].

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

7.  Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

Authors:  M C Speer; J M Gilchrist; J G Chutkow; R McMichael; C A Westbrook; J M Stajich; E M Jorgenson; P C Gaskell; B L Rosi; R Ramesar
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

8.  Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?

Authors:  Josep Gamez; Judith Armstrong; Alexey Shatunov; Albert Selva-O'Callaghan; Rosa Dominguez-Oronoz; Arantxa Ortega; Lev Goldfarb; Isidre Ferrer; Montse Olivé
Journal:  J Neurol Sci       Date:  2008-11-22       Impact factor: 3.181

Review 9.  Genetic basis of limb-girdle muscular dystrophies: the 2014 update.

Authors:  Vincenzo Nigro; Marco Savarese
Journal:  Acta Myol       Date:  2014-05

10.  The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.

Authors:  Alexander Peter Murphy; Volker Straub
Journal:  J Neuromuscul Dis       Date:  2015-07-22
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