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

Thomas, Nicholas Stuart Tudor, Williams, H., Cole, G., Roberts, K., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Liechti-Gallati, S., Braga, S., Gerber, Annelies, Meier, C. and Moser, H. 1990. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. Journal of Medical Genetics 27 (5) , pp. 284-287. 10.1136/jmg.27.5.284

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ
ISSN:	1468-6244
Last Modified:	25 Oct 2022 09:57
URI:	https://orca.cardiff.ac.uk/id/eprint/60576

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