NDLI: Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

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Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

Content Provider	Springer Nature Link
Author	Jakubiczka, Sibylle Vielhaber, Stefan Kress, Wolfram Küpferling, Peter Reuner, Ulrike Kunath, Bernhard Wieacker, Peter
Copyright Year	2004
Abstract	Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21. Because these expansions show a marked mitotic instability, expanded alleles are often difficult to detect. In order to improve the diagnostic procedure, we applied a combination of pulsed-field gel electrophoresis and semi-quantitative Southern blot analysis with a novel hybridization probe. The combination of these methods led to unequivocal results in about 98% of cases with a clinical diagnosis of PROMM/DM 2. Furthermore, we report the genotype/phenotype correlation in a patient lacking a normal ZNF9 allele and a further proband with a “grey zone” allele.
Starting Page	55
Ending Page	59
Page Count	5
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	5
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2003-12-10
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Proximal myotonic myopathy Myotonic dystrophy type 2 ZNF9 gene Expansion detection CCTG repeat
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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