Literature DB >> 9199578

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.

C Guiraud-Chaumeil, M C Vincent, J Laporte, M Fardeau, F Samson, J L Mandel.   

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Year:  1997        PMID： 9199578      PMCID： PMC1716143          DOI： 10.1016/S0002-9297(07)64249-9

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


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  6 in total

1.  X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.

Authors:  L J Hu; J Laporte; P Kioschis; S Heyberger; C Kretz; A Poustka; J L Mandel; N Dahi
Journal:  Hum Genet       Date:  1996-08       Impact factor: 4.132

2.  Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers.

Authors:  L J Hu; J Laporte; W Kress; N Dahl
Journal:  Prenat Diagn       Date:  1996-03       Impact factor: 3.050

3.  A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Authors:  J Laporte; L J Hu; C Kretz; J L Mandel; P Kioschis; J F Coy; S M Klauck; A Poustka; N Dahl
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

Review 4.  The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Authors:  C Wallgren-Pettersson; A Clarke; F Samson; M Fardeau; V Dubowitz; H Moser; T Grimm; R J Barohn; P G Barth
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

5.  Genetic linkage heterogeneity in myotubular myopathy.

Authors:  F Samson; L Mesnard; M Heimburger; A Hanauer; M Chevallay; J J Mercadier; J F Pelissier; N Feingold; C Junien; J L Mandel
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

6.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025
  6 in total
  1 in total

1.  Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Authors:  M C Vincent; C Guiraud-Chaumeil; J Laporte; S Manouvrier-Hanu; J L Mandel
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318
  1 in total

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