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Article

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

Neurogenetics - 1 Feb 2004

Jakubiczka Sibylle, Vielhaber Stefan, Kress Wolfram, Küpferling Peter, Reuner Ulrike, Kunath Bernhard, Wieacker Peter

Abstract excerpt

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...

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Source

Identifiers

PMID: 14666402
DOI: 10.1007/s10048-003-0168-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.PMID 14666402Read ↗

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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.Semantic proximity Read ↗

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