Literature DB >> 1975852

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

C Wijmenga1, R R Frants, O F Brouwer, P Moerer, J L Weber, G W Padberg.   

Abstract

The autosomal dominant disorder facioscapulohumeral muscular dystrophy (FSHD) is the last of the major progressive muscular dystrophies in which the gene had not been located. In linkage analysis on ten Dutch families with this disorder a lod score of 6.34 at a recombination fraction of 0.13 was obtained with the microsatellite marker Mfd 22 (D4S171). This maps the FSHD gene to chromosome 4. Only one family was uninformative for this marker. We found no evidence of genetic heterogeneity.

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Year:  1990        PMID： 1975852     DOI： 10.1016/0140-6736(90)92148-b

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  81 in total

1.  Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.

Authors:  M C Lanasa; W A Hogge; C Kubik; J Blancato; E P Hoffman
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S M van der Maarel; G Deidda; R J Lemmers; E Bakker; M J van der Wielen; L Sandkuijl; J E Hewitt; G W Padberg; R R Frants
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

3.  Framework multipoint map of the long arm of human chromosome 4 and telomeric localization of the gene for FSHD.

Authors:  B Weiffenbach; R G Bagley; K Falls; J Dubois; C Hyser; D Storvick; P Schultz; J R Mendell; E C Milner; S J Jacobsen
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 4.  Recent advances in understanding muscular dystrophy.

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

Review 5.  The muscular dystrophies.

Authors:  V Dubowitz
Journal:  Postgrad Med J       Date:  1992-07       Impact factor: 2.401

6.  Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.

Authors:  Miri Yanoov-Sharav; Esther Leshinsky-Silver; Sarit Cohen; Chana Vinkler; Marina Michelson; Tally Lerman-Sagie; Mira Ginzberg; Menahem Sadeh; Dorit Lev
Journal:  J Genet Couns       Date:  2011-11-23       Impact factor: 2.537

7.  FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

Authors:  T Rijkers; G Deidda; S van Koningsbruggen; M van Geel; R J L F Lemmers; J C T van Deutekom; D Figlewicz; J E Hewitt; G W Padberg; R R Frants; S M van der Maarel
Journal:  J Med Genet       Date:  2004-11       Impact factor: 6.318

Review 8.  The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Authors:  Silvère M van der Maarel; Rune R Frants
Journal:  Am J Hum Genet       Date:  2005-01-24       Impact factor: 11.025

9.  Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI.

Authors:  David B Olsen; Peter Gideon; Tina Dysgaard Jeppesen; John Vissing
Journal:  J Neurol       Date:  2006-06-13       Impact factor: 4.849

10.  A multinational study on motor function in early-onset FSHD.

Authors:  Jean K Mah; Jia Feng; Marni B Jacobs; Tina Duong; Kate Carroll; Katy de Valle; Cara L Carty; Lauren P Morgenroth; Michela Guglieri; Monique M Ryan; Paula R Clemens; Mathula Thangarajh; Richard Webster; Edward Smith; Anne M Connolly; Craig M McDonald; Peter Karachunski; Mar Tulinius; Amy Harper; Avital Cnaan; Yi-Wen Chen
Journal:  Neurology       Date:  2018-03-14       Impact factor: 9.910
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