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Literature DB >> 2352256

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

N S Thomas¹, H Williams, G Cole, K Roberts, A Clarke, S Liechti-Gallati, S Braga, A Gerber, C Meier, H Moser.

Abstract

We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), and with F8C (Z = 1.020, theta = 0.00). In the absence of any observable recombination, we are unable to sublocalise the XLMTM locus further within the Xq28 region. This evidence for an Xq28 localisation may allow us to carry out useful genetic counselling within such families.

Entities: Disease Gene

Mesh：

Substances：

Year: 1990 PMID： 2352256 PMCID： PMC1017076 DOI： 10.1136/jmg.27.5.284

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

12 in total

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15 in total

1. X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.

Authors: Ji Hyun Jeon; Ran Namgung; Min Soo Park; Kook In Park; Chul Lee; Jin Sung Lee; Se Hoon Kim
Journal: Yonsei Med J Date: 2011-05 Impact factor: 2.759

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Journal: J Med Genet Date: 1995-03 Impact factor: 6.318

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Authors: R J Snow; R M Murphy
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Review 4. The myotubularin family of lipid phosphatases in disease and in spermatogenesis.

Authors: Dolores D Mruk; C Yan Cheng
Journal: Biochem J Date: 2011-01-15 Impact factor: 3.857

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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

6. Creatine transporters: a reappraisal.

Authors: Oliver Speer; Lukas J Neukomm; Robyn M Murphy; Elsa Zanolla; Uwe Schlattner; Hugues Henry; Rodney J Snow; Theo Wallimann
Journal: Mol Cell Biochem Date: 2004 Jan-Feb Impact factor: 3.396

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

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Journal: J Med Genet Date: 1994-12 Impact factor: 6.318

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Journal: J Med Genet Date: 1995-09 Impact factor: 6.318

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Journal: Am J Hum Genet Date: 1995-07 Impact factor: 11.025

10. 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