Literature DB >> 1972196

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

A E Lehesjoki1, E M Sankila, J Miao, M Somer, R Salonen, J Rapola, A de la Chapelle.   

Abstract

A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.

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Year:  1990        PMID： 1972196      PMCID： PMC1017077          DOI： 10.1136/jmg.27.5.288

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

Authors:  N Dahl; K Hammarström-Heeroma; P Goonewardena; C Wadelius; K H Gustavson; G Holmgren; G J van Ommen; U Pettersson
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

2.  X-linked neonatal myotubular myopathy.

Authors:  G P Giacoia; J E Hale
Journal:  South Med J       Date:  1984-09       Impact factor: 0.954

3.  Morphologic and morphometric analysis of muscle in X-linked myotubular myopathy.

Authors:  M M Silver; J J Gilbert; S Stewart; D Brabyn; J Jung
Journal:  Hum Pathol       Date:  1986-11       Impact factor: 3.466
  3 in total
  8 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

2.  Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.

Authors:  B de Gouyon; A Chatterjee; A Monaco; N Quaderi; S D Brown; G E Herman
Journal:  Mamm Genome       Date:  1996-08       Impact factor: 2.957

3.  X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Authors:  N Dahl; F Samson; N S Thomas; L J Hu; W Gong; G Herman; J Laporte; P Kioschis; A Poustka; J L Mandel
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

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

7.  Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

Authors:  G G Consalez; N S Thomas; C L Stayton; S J Knight; M Johnson; L C Hopkins; P S Harper; L J Elsas; S T Warren
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

Review 8.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123
  8 in total

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