Literature DB >> 9921867

Linkage of proximal myotonic myopathy to chromosome 3q.

K Ricker1, T Grimm, M C Koch, C Schneider, W Kress, C D Reimers, W Schulte-Mattler, B Mueller-Myhsok, K V Toyka, C R Mueller.   

Abstract

We performed genetic linkage analysis in nine German proximal myotonic myopathy (PROMM) families using DNA-markers D3S1541 and D3S1589 from the region of the recently discovered gene locus of myotonic dystrophy type 2 (DM2) on chromosome 3q. Two-point analysis supplied an lod score of 5.9. We conclude that a gene causing PROMM is located on chromosome 3q. PROMM and DM2 may be allelic disorders or may be caused by closely linked genes.

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Year:  1999        PMID： 9921867     DOI： 10.1212/wnl.52.1.170

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  9 in total

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5.  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.

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  9 in total

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