Literature DB >> 8173354

Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy.

C Wallgren-Pettersson1, N S Thomas.   

Abstract

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Year:  1994        PMID： 8173354     DOI： 10.1016/0960-8966(94)90050-7

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


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  4 in total

1.  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 2.  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

3.  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

Review 4.  Centronuclear (myotubular) myopathy.

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

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