Clin Genet. 1990 May;37(5):335-40.

X-linked myotubular myopathy: a linkage study.

Darnfors C, Larsson HE, Oldfors A, Kyllerman M, Gustavson KH, Bjursell G, Wahlström J.

Source

Department of Clinical Genetics, University of Göteborg, Sweden.

Abstract

Two families with the congenital X-linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X-chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (theta = 0.50) were seen using the markers DXS84, DXS14 and DXS146 from the p arm of the X-chromosome. Since the disorder is very rare, it is important to add cumulative linkage data from the few families that do exist.

PMID:: 1972354; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

LinkOut - more resources

Medical

X-linked myotubular myopathy - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. [J Med Genet. 1993]
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
Arngrimsson R, Dokal I, Luzzatto L, Connor JM. J Med Genet. 1993 Jul; 30(7):618-9.
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. [Neuromuscul Disord. 1994]
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.
Janssen EA, Hensels GW, van Oost BA, Hamel BC, Kemp S, Baas F, Weber JW, Barth PG, Bolhuis PA. Neuromuscul Disord. 1994 Sep-Nov; 4(5-6):455-61.
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. [J Med Genet. 1990]
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
Lehesjoki AE, Sankila EM, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A. J Med Genet. 1990 May; 27(5):288-91.
Review X-linked myotubular myopathy: refinement of the critical gene region. [Neuromuscul Disord. 1996]
Review X-linked myotubular myopathy: refinement of the critical gene region.
Smolenicka Z, Laporte J, Hu L, Dahl N, Fitzpatrick J, Kress W, Liechti-Gallati S. Neuromuscul Disord. 1996 Aug; 6(4):275-81.
Review [Cousins with X-linked recessive myotubular myopathy]. [No To Hattatsu. 1997]
Review [Cousins with X-linked recessive myotubular myopathy].
Mori Y, Kaneko S, Nakayama T, Date M, Nakamoto N, Kobayashi M, Sugiura M, Hashira S, Abe T, Hirokawa H, et al. No To Hattatsu. 1997 Jul; 29(4):310-4.

See reviews... See all...

Cited by 5 PubMed Central articles

Review Centronuclear (myotubular) myopathy. [Orphanet J Rare Dis. 2008]
Review Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J. Orphanet J Rare Dis. 2008 Sep 25; 3:26. Epub 2008 Sep 25.
Review The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. [J Med Genet. 1995]
Review The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG. J Med Genet. 1995 Sep; 32(9):673-9.
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). [J Med Genet. 1994]
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL. J Med Genet. 1994 Dec; 31(12):922-4.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
UniSTS
Genetic, physical, and sequence mapping reagents in the UniSTS database associated with the current articles through references on sequence tagged site (STS) submissions as well as automated searching of PubMed abstracts and full-text PubMed Central articles for marker names.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

X-linked myotubular myopathy: a linkage study.
X-linked myotubular myopathy: a linkage study.
Clin Genet. 1990 May ;37(5):335-40.

PubMed
Anthrax in animals.
Anthrax in animals.
Mol Aspects Med. 2009 Dec ;30(6):481-9. Epub 2009 Aug 31 .

PubMed
Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellu...
Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking.
Cell Metab. 2009 Sep ;10(3):208-18.

PubMed
Covalently-immobilized vascular endothelial growth factor promotes endothelial c...
Covalently-immobilized vascular endothelial growth factor promotes endothelial cell tubulogenesis in poly(ethylene glycol) diacrylate hydrogels.
J Biomater Sci Polym Ed. 2009 ;20(12):1763-79.

PubMed
Sensitivity and specificity of fluorescence microscopy for diagnosing pulmonary ...
Sensitivity and specificity of fluorescence microscopy for diagnosing pulmonary tuberculosis in a high HIV prevalence setting.
Int J Tuberc Lung Dis. 2009 Sep ;13(9):1130-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: